| regulation of seminiferous tubule-associated stem leydig cells in adult rat testes. | testicular leydig cells are the primary source of testosterone in males. adult leydig cells have been shown to arise from stem cells present in the neonatal testis. once established, adult leydig cells turn over only slowly during adult life, but when these cells are eliminated experimentally from the adult testis, new leydig cells rapidly reappear. as in the neonatal testis, stem cells in the adult testis are presumed to be the source of the new leydig cells. as yet, the mechanisms involved in ... | 2016 | 26929346 |
| projections of nucleus caudalis and spinal cord to brainstem and diencephalon in the hedgehog (erinaceus europaeus and paraechinus aethiopicus): a degeneration study. | in the light of hypotheses related to the evolution of pain-carrying systems in mammals, terminal projection fields in brainstem and diencephalon of efferents of nucleus caudalis (nc) of the spinal trigeminal complex and spinal cord were determined in hedgehog by using nauta-gygax and fink-heimer silver techniques for degeneration. unilateral nc lesions resulted in medullary degeneration in the ventral portion of nc contralaterally and bilaterally in cuneate nucleus (cu) and reticular formation. ... | 1983 | 6863599 |
| [dura conditions, brain vessels and capillary density in the brains of the european hedgehog (erinaceus europaeus) and the desert hedgehog (erinaceus algirus levaudeni)]. | | 1968 | 5717246 |
| expression of hedgehog pathway mediator gli represents a negative prognostic marker in human acute myeloid leukemia and its inhibition exerts antileukemic effects. | the hedgehog pathway plays an important role in stem-cell biology and malignant transformation. therefore, we investigated the expression and prognostic impact of hedgehog pathway members in acute myeloid leukemia (aml). | 2015 | 25745035 |
| evolutionary genomics and adaptive evolution of the hedgehog gene family (shh, ihh and dhh) in vertebrates. | the hedgehog (hh) gene family codes for a class of secreted proteins composed of two active domains that act as signalling molecules during embryo development, namely for the development of the nervous and skeletal systems and the formation of the testis cord. while only one hh gene is found typically in invertebrate genomes, most vertebrates species have three (sonic hedgehog--shh; indian hedgehog--ihh; and desert hedgehog--dhh), each with different expression patterns and functions, which like ... | 2014 | 25549322 |
| desert hedgehog signalling pathway is involved in the proliferation of a malignant peripheral nerve sheath tumour-derived cell line from neurofibromatosis type 1. | | 2002 | 12366446 |
| schwann cell-derived desert hedgehog signals nerve sheath formation. | reciprocal signaling between axons and schwann cells during development is well established. the contribution of schwann cells to the formation and maintenance of the protective nerve sheaths (endo-, peri-, and epineurium) has been less studied. although mesenchymal cells contribute to all these structures, only perineurial cells contribute to the diffusion barrier between nerves and surrounding tissues. during development, prospective perineurial cells shift from a mesenchymal to epithelial phe ... | 1999 | 10586245 |
| deletion of kcc3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum. | hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (hmsn/acc or accpn) is an autosomal recessive disease caused by the disruption of the slc12a6 gene, which encodes the k-cl cotransporter-3 (kcc3). a ubiquitous deletion of kcc3 in mice leads to severe locomotor deficits similar to accpn patients. however, the underlying pathological mechanism leading to the disease remains unclear. even though a recent study suggests that the neuropathic features of accpn are ... | 2014 | 25116249 |
| dynamic hedgehog signalling pathway activity in germline stem cells. | although the contribution of hedgehog (hh) signalling to stem cell development and oncogenesis is well recognised, its importance for spermatogonial stem cells (sscs) has not been established. here we interrogate adult rat sscs using an established model in which only undifferentiated spermatogonial cells remain in the testis at 15 weeks following irradiation, and spermatogonial differentiation is induced within 4 weeks by gonadotrophin-releasing hormone antagonist (gnrh-ant) administration. syn ... | 2014 | 24574096 |
| the neurobiology of schwann cells. | this selective review of schwann cell biology focuses on questions relating to the origins, development and differentiation of schwann cells and the signals that control these processes. the importance of neuregulins and their receptors in controlling schwann cell precursor survival and generation of schwann cells, and the role of these molecules in schwann cell biology is addressed. the reciprocal signalling between peripheral glial cells and neurons in development and adult life revealed in re ... | 1999 | 10219747 |
| wt1 is involved in leydig cell steroid hormone biosynthesis by regulating paracrine factor expression in mice. | wilms tumor gene, wt1, is abundantly expressed in testis sertoli cells. our recent study demonstrated that wt1 is involved in spermatogenesis by regulating sertoli cell polarity. in the present study, we found that wt1 is also required for steroidogenesis in leydig cells and that deletion of the wt1 gene resulted in defects in testosterone biosynthesis and downregulation of steroidogenic gene expression, including cytochrome p450 side-chain cleavage (p450scc), steroidogenic acute regulatory prot ... | 2014 | 24571983 |
| dhh-rhebl1 fusion transcript: a novel recurrent feature in the new landscape of pediatric cbfa2t3-glis2-positive acute myeloid leukemia. | childhood acute myeloid leukemia (aml) is a clinically and genetically heterogeneous malignant disease. despite improvements in outcome over the past decades, the current survival rate still is approximately 60-70%. cytogenetic, recurrent genetic abnormalities and early response to induction treatment are the main factors predicting clinical outcome. while the majority of children carry recurrent chromosomal translocations, 20% of patients do not show any recognizable cytogenetic alteration and ... | 2013 | 24127550 |
| serum level of desert hedgehog protein in autism spectrum disorder: preliminary results. | to investigate the role of desert hedgehog (dhh) in a neurodevelopmental disorder known as autism. | 2014 | 24009062 |
| the intrahepatic signalling niche of hedgehog is defined by primary cilia positive cells during chronic liver injury. | in vertebrates, canonical hedgehog (hh) pathway activation requires smoothened (smo) translocation to the primary cilium (pc), followed by a gli-mediated transcriptional response. in addition, a similar gene regulation occurs in response to growth factors/cytokines, although independently of smo signalling. the hh pathway plays a critical role in liver fibrosis/regeneration, however, the mechanism of activation in chronic liver injury is poorly understood. this study aimed to characterise hh pat ... | 2014 | 23978713 |
| in vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,xy gonadal dysgenesis. | mutations of desert hedgehog (dhh) have been associated to 46,xy pure gonadal dysgenesis (pgd) and to mixed gonadal dysgenesis (mgd); however, there have been no functional studies of mutations described in dhh. to determine if mutations p.l162p and δ1086delg yield functional impairment, we performed in vitro and in silico analysis of both dhh mutants. in complementary dna of dhh, we performed site-directed mutagenesis, which was confirmed by dna sequencing. protein extracts were obtained from h ... | 2013 | 23786321 |
| a review of hedgehog signaling in cranial bone development. | during craniofacial development, the hedgehog (hh) signaling pathway is essential for mesodermal tissue patterning and differentiation. the hh family consists of three protein ligands: sonic hedgehog (shh), indian hedgehog (ihh), and desert hedgehog (dhh), of which two are expressed in the craniofacial complex (ihh and shh). dysregulations in hh signaling are well documented to result in a wide range of craniofacial abnormalities, including holoprosencephaly (hpe), hypotelorism, and cleft lip/pa ... | 2013 | 23565096 |
| autocrine sonic hedgehog attenuates inflammation in cerulein-induced acute pancreatitis in mice via upregulation of il-10. | hedgehog signaling plays critical roles in pancreatic oncogenesis and chronic pancreatitis, but its roles in acute pancreatitis (ap) are largely ambiguous. in this study, we provide evidence that sonic hedgehog (shh), but neither desert hedgehog (dhh) nor indian hedgehog (ihh), is the main protein whose expression is activated during the development of cerulein-induced acute pancreatitis in mice, and the shh serves as an anti-inflammation factor in an autocrine manner. blocking autocrine shh sig ... | 2012 | 22956998 |
| [desert hedgehog regulates the proliferation and differentiation of leydig cells: an update]. | hedgehog signaling pathway plays an important role in regulating the development of endocrine glands. desert hedgehog (dhh) has become a recent focus for its regulation of testis development, especially of leydig cells. dhh, as a sertoli cell product, regulates the proliferation and differentiation of leydig cell lineage and functions to secrete testosterone through a paracrine signaling mechanism. testosterone, as the most important sex hormone of the male, plays a critical role in testis devel ... | 2012 | 22568218 |
| interactions of signaling proteins, growth factors and other proteins with heparan sulfate: mechanisms and mysteries. | heparan sulfate (hs) is a component of cell surface and matrix-associated proteoglycans (hspgs) that, collectively, play crucial roles in many physiologic processes including cell differentiation, organ morphogenesis and cancer. a key function of hs is to bind and interact with signaling proteins, growth factors, plasma proteins, immune-modulators and other factors. in doing so, the hs chains and hspgs are able to regulate protein distribution, bio-availability and action on target cells and can ... | 2015 | 26076122 |
| desert hedgehog is a mediator of demyelination in compression neuropathies. | the secreted protein desert hedgehog (dhh) controls the formation of the nerve perineurium during development and is a key component of schwann cells that ensures peripheral nerve survival. we postulated that dhh may play a critical role in maintaining myelination and investigated its role in demyelination-induced compression neuropathies by using a post-natal model of a chronic nerve injury in wildtype and dhh(-/-) mice. we evaluated demyelination using electrophysiological, morphological, and ... | 2015 | 25936873 |
| 46,xy gonadal dysgenesis due to a homozygous mutation in desert hedgehog (dhh) identified by exome sequencing. | 46,xy disorders of sex development (dsd) comprise a heterogeneous group of congenital conditions. mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. | 2015 | 25927242 |
| lineage specification of ovarian theca cells requires multicellular interactions via oocyte and granulosa cells. | organogenesis of the ovary is a highly orchestrated process involving multiple lineage determination of ovarian surface epithelium, granulosa cells and theca cells. although the sources of ovarian surface epithelium and granulosa cells are known, the origin(s) of theca progenitor cells have not been definitively identified. here we show that theca cells derive from two sources: wt1(+) cells indigenous to the ovary and gli1(+) mesenchymal cells that migrate from the mesonephros. these progenitors ... | 2015 | 25917826 |
| characterization of two new zebrafish members of the hedgehog family: atypical expression of a zebrafish indian hedgehog gene in skeletal elements of both endochondral and dermal origins. | we have characterized two new members of the hedgehog (hh) family in zebrafish, ihha and dhh, encoding for orthologues of the tetrapod indian hedgehog (ihh) and desert hedgehog (dhh) genes, respectively. comparison of ihha and type x collagen (col10a1) expression during skeletal development show that ihha transcripts are located in hypertrophic chondrocytes of cartilaginous elements of the craniofacial and fin endoskeleton. surprisingly, col10a1 expression was also detected in cells forming intr ... | 2006 | 16292774 |
| schwann cell-derived desert hedgehog signals nerve sheath formation. | reciprocal signaling between axons and schwann cells during development is well established. the contribution of schwann cells to the formation and maintenance of the protective nerve sheaths (endo-, peri-, and epineurium) has been less studied. although mesenchymal cells contribute to all these structures, only perineurial cells contribute to the diffusion barrier between nerves and surrounding tissues. during development, prospective perineurial cells shift from a mesenchymal to epithelial phe ... | 1999 | 29086927 |
| creating barriers: a new role for schwann cells and desert hedgehog. | | 1999 | 10482226 |
| regulation of germ cell death in mammalian gonads. | a large number of primordial germ cells (pgcs), as well as spermatogonia, undergo programmed cell death or apoptosis in the physiological context. in this process, environmental, cytoplasmic and nuclear factors are involved. bcl-2 and its related molecules are known as general regulators of cell death, and some are important for survival of pgcs and spermatogonia. steel factor, a ligand for c-kit, also supports growth and survival of these cells. in addition, bone morphogenetic protein (bmp)8b a ... | 1998 | 9524572 |
| next-generation sequencing reveals novel genetic variants (sry, dmrt1, nr5a1, dhh, dhx37) in adults with 46,xy dsd. | the genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (dsds) have now been reported. however, reaching a specific diagnosis using traditional approaches can be difficult, especially in adults where limited biochemical data may be available. | 2019 | 31745530 |
| stem leydig cells in the adult testis: characterization, regulation and potential applications. | androgen deficiency (hypogonadism) affects males of all ages. testosterone replacement therapy (trt) is effective in restoring serum testosterone and relieving symptoms. trt, however, is reported to have possible adverse effects in part because administered testosterone is not produced in response to the hypothalamic-pituitary-gonadal (hpg) axis. progress in stem cell biology offers potential alternatives for treating hypogonadism. adult leydig cells (alcs) are generated by stem leydig cells (sl ... | 2020 | 31673697 |
| moniliformis cryptosaudi n. sp. (acanthocephala: moniliformidae) from the long-eared hedgehog hemiechinus auritus (gmelin) (erinaceidae) in iraq; a case of incipient cryptic speciation related to m. saudi in saudi arabia. | moniliformis cryptosaudi n. sp. (moniliformidae) is an acanthocephalan described from the long-eared hedgehog hemiechinus auritus (gmelin) (erinaceidae) in iraq as an incipient cryptic species of moniliformis saudi amin, heckmann, mohammed, evans, 2016 described from the desert hedgehog paraechinus aethiopicus (ehrenberg) (erinaceidae) in saudi arabia. microscopical studies demonstrate that the two species are morphologically indistinguishable with practically identical measurements and counts b ... | 2019 | 30666546 |
| convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to dhh. | minifascicular neuropathy (mn) is a rare, autosomal recessive disease with prominent structural changes of peripheral nerves. so far, it has been observed in females with a 46,xy karyotype and mutations of the desert hedgehog (dhh) gene, thus linking mn to gonadal dysgenesis (gd) and disorders of sex development (dsd). however, a 46,xx proband with normal female sex and gender development underwent clinical evaluations, nerve conduction studies and genetic screening for a severe motor-sensory ne ... | 2020 | 33107133 |
| epithelial wnt2b and desert hedgehog are necessary for human colonoid regeneration after bacterial cytotoxin injury. | intestinal regeneration and crypt hyperplasia after radiation or pathogen injury relies on wnt signaling to stimulate stem cell proliferation. mesenchymal wnts are essential for homeostasis and regeneration in mice, but the role of epithelial wnts remains largely uncharacterized. using the enterohemorrhagic e. coli-secreted cytotoxin espp to induce injury to human colonoids, we evaluated a simplified, epithelial regeneration model that lacks mesenchymal wnts. here, we demonstrate that epithelial ... | 2020 | 33089106 |
| full-length dhh and n-terminal shh act as competitive antagonists to regulate angiogenesis and vascular permeability. | the therapeutic potential of hedgehog (hh) signalling agonists for vascular diseases is of growing interest. however, molecular and cellular mechanisms underlying the role of the hh signalling in vascular biology remain poorly understood. | 2020 | 33063110 |
| desert hedgehog-driven endothelium integrity is enhanced by gas1 (growth arrest-specific 1) but negatively regulated by cdon (cell adhesion molecule-related/downregulated by oncogenes). | evidences accumulated within the past decades identified hedgehog signaling as a new regulator of endothelium integrity. more specifically, we recently identified desert hedgehog (dhh) as a downstream effector of klf2 (kruppel-like factor 2) in endothelial cells (ecs). the purpose of this study is to investigate whether hedgehog coreceptors gas1 (growth arrest-specific 1) and cdon (cell adhesion molecule-related/downregulated by oncogenes) may be used as therapeutic targets to modulate dhh signa ... | 2020 | 33028094 |
| regulation of murine normal and stress-induced erythropoiesis by desert hedgehog. | the function of hedgehog signaling in hematopoiesis is controversial, with different experimental systems giving opposing results. here we examined the role of desert hedgehog (dhh) in the regulation of murine erythropoiesis. dhh is one of 3 mammalian hedgehog family proteins. dhh is essential for testis development and schwann cell function. we show, by analysis of dhh-deficient mice, that dhh negatively regulates multiple stages of erythrocyte differentiation. in dhh-deficient bone marrow, the ... | 2012 | 22461491 |
| hedgehog signaling. | the original hedgehog (hh) gene was found in drosophila and named for the appearance of a mutant phenotype which causes an embryo to be covered with pointy denticles, thus resembling a hedgehog. the hedgehog family consists of sonic hedgehog (shh), desert hedgehog (dhh), and indian hedgehog (ihh). shh is found in vertebrates and the best studied ligand of the hedgehog signaling pathway (gilbert, 2000). it plays an important role in regulating vertebrate organogenesis, such as in the growth of di ... | 2012 | 22391297 |
| a comparison of the ranging behaviour and habitat use of the ethiopian hedgehog (paraechinus aethiopicus) in qatar with hedgehog taxa from temperate environments. | we investigated seasonal changes in the ecology and behaviour of the ethiopian hedgehog (paraechinus aethiopicus) in qatar, particularly in respect to differences in behaviour between hedgehogs living in arid environments and hedgehogs in temperate mesic environments. these comparisons will allow us to explore behavioural adaptations to different environments across hedgehog taxa. we radio-tracked 30 hedgehogs in qatar over two years, and measured home range size, habitat preference, travel spee ... | 2018 | 30542104 |
| a familial syndrome of hypothalamic hamartomas, polydactyly, and smo mutations: a clinical report of 2 cases. | hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. these tumors are most often sporadic but rarely can be associated with pallister-hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. in this clinical report, the authors describe two brothers with a different familial ... | 2018 | 30497210 |
| restoring endothelial function by targeting desert hedgehog downstream of klf2 improves critical limb ischemia in adults. | klf (kruppel-like factor) 2 is critical to establish and maintain endothelial integrity. | 2018 | 30355159 |
| interleukin-15 facilitates muscle regeneration through modulation of fibro/adipogenic progenitors. | chronic muscle injury is characteristics of fatty infiltration and fibrosis. recently, fibro/adipogenic progenitors (faps) were found to be indispensable for muscular regeneration while were also responsible for fibrosis and fatty infiltration in muscle injury. many myokines have been proven to regulate the adipose or cell proliferation. because the fate of faps is largely dependent on microenvironment and the regulation of myokines on faps is still unclear. we screened the potential myokines an ... | 2018 | 30029643 |
| reproductive, physiological, and molecular outcomes in female mice deficient in dhh and ihh. | ovarian development requires coordinate communications among oocytes, granulosa cells, and theca cells. two hedgehog (hh) pathway ligands, desert hedgehog (dhh) and indian hedgehog (ihh), are produced by the granulosa cells and work together to regulate theca cell specification and development. mice lacking both dhh and ihh had loss of normal ovarian function, which raised the question of which biological actions are specifically controlled by each ligand during folliculogenesis. by comparing th ... | 2018 | 29788357 |
| gastric cancer and hedgehog signaling pathway: emerging new paradigms. | ever since its initial discovery in drosophila, hedgehog signaling has been linked to foregut development, the mammalian genome expresses three hedgehog paralogues, sonic hedgehog (shh), indian hedgehog, and desert hedgehog. in the mucosa of the embryonic and adult foregut, shh expression is the highest. it has now become clear that hedgehog signaling is of pivotal importance in gastric homeostasis. aberrant activation of hedgehog signaling is associated with a range of pathological consequences ... | 2018 | 29725500 |
| synthesis and biological evaluation of sant-2 and analogues as inhibitors of the hedgehog signaling pathway. | hedgehog (hh) signaling plays an important role in cell signaling of embryonic development and adult tissue homeostasis. in vertebrates, the hh gene encodes three different unique proteins: sonic hedgehog (shh), desert hedgehog (dhh) and indian hedgehog (ihh). disruption of the hh signaling pathway leads to severe disorders in the development of vertebrates whereas aberrant activation of the hh pathway has been associated with several malignancies including gorlin syndrome (a disorder predisposi ... | 2009 | 19541490 |
| mouse ptchd3 is a non-essential gene. | mouse ptchd3 (patched domain containing 3) was previously identified as a male germ-cell specific gene. the protein product of this gene has been found on the surface of mouse, rat and human sperm. since ptchd3 contains a conserved patched domain, we hypothesize that it functions as a membrane receptor for the hedgehog ligand. herein, we used a ptchd3 knockout mouse model to study its function in mouse development and spermatogenesis. we found that ptchd3 knockout mice were born and lived normal ... | 2020 | 32550558 |
| hedgehog signaling regulates the basement membrane remodeling during folliculogenesis in the neonatal mouse ovary. | in the mouse ovary, interactions between oocytes and somatic cells are essential for folliculogenesis and subsequent follicle development. the polyovular follicle (pf), which contains more than two oocytes in a follicle, can be induced in the neonatal mouse ovary when interactions between oocytes and somatic cells are disrupted by agents such as the potent synthetic estrogen diethylstilbestrol (des) acting through estrogen receptor (er) β. hedgehog signaling is known to regulate granulosa cell p ... | 2020 | 32542407 |
| where are the theca cells from: the mechanism of theca cells derivation and differentiation. | mammalian follicles are composed of oocytes, granulosa cells, and theca cells. theca cells form in the secondary follicles, maintaining follicular structural integrity and secreting steroid hormones. two main sources of theca cells exist: wilms tumor 1 positive (wt1) cells native to the ovary and gli1 mesenchymal cells migrated from the mesonephros. normal folliculogenesis is a process where oocytes, granulosa cells, and theca cells constantly interact with and support each other through autocri ... | 2020 | 32530882 |
| peripheral neuropathy and 46xy gonadal dysgenesis: a heterogeneous entity. | gonadal dysgenesis with normal male karyotype (46xy) is a sexual differentiation disorder. so far three patients have been reported presenting the association of 46xy gonadal dysgenesis with peripheral neuropathy. examination of sural nerves revealed minifascicle formation in two of them. in one patient, a mutation was found in desert hedgehog homolog (drosophila), a gene important in gonadal differentiation and peripheral nerve development. we studied neuropathological and molecular genetic asp ... | 2009 | 19167223 |
| hedgehog signaling is essential for normal wound healing. | the hedgehog family of morphogens (sonic [shh], indian, and desert hedgehog) are central regulators of embryologic growth and tissue patterning. although recent work implicates shh in postnatal tissue repair and development, conclusive evidence is lacking. here, we demonstrated the importance of shh in wound repair, by examining the effects of cyclopamine, a specific inhibitor of the shh signaling cascade, on tissue repair. using a murine-splinted excisional wound model, which attenuates wound c ... | 2012 | 19128247 |
| plexiform and dermal neurofibromas and pigmentation are caused by nf1 loss in desert hedgehog-expressing cells. | neurofibromatosis type 1 (nf1) mutation predisposes to benign peripheral nerve (glial) tumors called neurofibromas. the point(s) in development when nf1 loss promotes neurofibroma formation are unknown. we show that inactivation of nf1 in the glial lineage in vitro at embryonic day 12.5 + 1, but not earlier (neural crest) or later (mature schwann cell), results in colony-forming cells capable of multilineage differentiation. in vivo, inactivation of nf1 using a dhhcre driver beginning at e12.5 e ... | 2008 | 18242511 |
| hedgehog signaling in skeletal development. | hedgehog signaling coordinates a variety of patterning processes during early embryonic development. drosophila hedgehog and its vertebrate orthologs, sonic hedgehog, indian hedgehog, and desert hedgehog, share a generally conserved signal transduction cascade. however, the particular mechanisms by which the lipid-modified molecules specify embryonic tissues differ substantially. vertebrate skeletal patterning is one of the most intensively studied biological processes. during skeletogenesis, so ... | 2006 | 17061262 |
| multiple gene expression analyses in paraffin-embedded tissues by taqman low-density array: application to hedgehog and wnt pathway analysis in ovarian endometrioid adenocarcinoma. | recent studies have shown the hedgehog and wnt families of signaling proteins to be associated with tumor initiation, growth, and survival. however, these pathways remain unexplored in ovarian endometrioid adenocarcinoma (oea). here, we describe a novel taqman low-density array to examine the expression of 26 and 20 genes in the hedgehog and wnt pathways, respectively, in six matched snap-frozen and formalin-fixed, paraffin-embedded (fpe) oea specimens. expression values were normalized to uninv ... | 2006 | 16436637 |
| a heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. | aetiology of mixed gonadal dysgenesis (mgd) has not been completely elucidated. molecular analyses have failed to demonstrate the presence of mutations in sex-determining region on y chromosome (sry); it has been suggested that these individuals may bear mutations in other genes involved in the testis-determining pathway. desert hedgehog's (dhh) importance regarding male sex differentiation has been demonstrated in various studies we describe here, for the first time, two cases of mgd in which a ... | 2005 | 16390857 |
| chidamide inhibits glioma cells by increasing oxidative stress via the mirna-338-5p regulation of hedgehog signaling. | chidamide has a broad spectrum of antitumor activity but its function on glioma remains unknown. the increase of reactive oxygen species (ros) and reactive nitrogen species (rns) may control glioma risk by promoting its apoptosis and necrosis. hedgehog pathway is crucial to glioma cell proliferation and controls ros production. we aimed to explore the effects of chidamide on the levels of mir-338-5p (glioma cell inhibitor), which may regulate hedgehog signaling, resulting in the changes of rns. ... | 2020 | 32256960 |
| desert hedgehog-primary cilia cross talk shapes mitral valve tissue by organizing smooth muscle actin. | non-syndromic mitral valve prolapse (mvp) is the most common heart valve disease affecting 2.4% of the population. recent studies have identified genetic defects in primary cilia as causative to mvp, although the mechanism of their action is currently unknown. using a series of gene inactivation approaches, we define a paracrine mechanism by which endocardially-expressed desert hedgehog (dhh) activates primary cilia signaling on neighboring valve interstitial cells. high-resolution imaging and f ... | 2020 | 32151560 |
| novel insights into dhh signaling in antler chondrocyte proliferation and differentiation: involvement of foxa. | the desert hedgehog (dhh) is crucial for spermatogenesis and leydig cell differentiation, but little is known regarding its physiological function in cartilage. in this study, dhh mrna was abundant in antler chondrocytes, where it advanced cell proliferation concomitant with accelerated transition from the g1 to the s phase and induced elevation of the hypertrophic chondrocyte markers, col x and runx2. silencing of ptch1 resulted in appreciable smo accumulation and enhanced rdhh stimulation of s ... | 2020 | 31960430 |
| arsenic trioxide and curcumin attenuate cisplatin-induced renal fibrosis in rats through targeting hedgehog signaling. | renal fibrosis is a progressive process resulting from a sustained injury that may ultimately cause renal failure. cisplatin is an antitumor drug that induces renal injury and nephrotoxicity and is widely employed as a model for acute and chronic renal injury. several signaling pathways are implicated in fibrogenic cell activation among which is hedgehog (hh) signaling. we here investigated the effects of arsenic trioxide (ars) and curcumin in ameliorating cisplatin-induced kidney fibrosis via r ... | 2020 | 31612257 |
| proteomics and bioinformatics approaches for the identification of plasma biomarkers to detect parkinson's disease. | the aim of the present study was to screen for biomarkers of parkinson's disease (pd) using proteomics and bioinformatics approaches. pd patients were divided into three groups: those without surgery (pd1 group); those who had undergone deep brain stimulation (dbs) surgery without electrode stimulation (pd2 group); and those who had undergone dbs surgery with 1 month of electrode stimulation (pd3 group). the non-parkinson control group (ck group) was also involved. quantitative proteomic analysi ... | 2019 | 31572530 |
| hedgehog signal and genetic disorders. | the hedgehog (hh) family comprises sonic hedgehog (shh), indian hedgehog (ihh), and desert hedgehog (dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and survival; establishment of the vertebrate body plan; and aging. these molecules play critical roles from embryogenesis to adult stages; therefore, alterations such as abnormal expression or mutations of the genes involved and their downstream factors ca ... | 2019 | 31781166 |
| in vitro functional characterization of the novel dhh mutations p.(asn337lysfs*24) and p.(glu212lys) associated with gonadal dysgenesis. | in humans, mutations of desert hedgehog gene (dhh) have been described in patients with 46,xy gonadal dysgenesis (gd), associated or not with polyneuropathy. in this study, we describe two patients diagnosed with gd, both harboring novel dhh compound heterozygous mutations p.[tyr176*];[asn337lysfs*24] and p.[tyr176*];[glu212lys]. to investigate the functional consequences of p.(asn337lysfs*24) and p.(glu212lys) mutations, located within the c-terminal part of dhh on auto-processing, we performed ... | 2018 | 30298535 |
| paraechinus aethiopicus (ehrenberg 1832) and atelerix algirus (lereboullet 1842) hedgehogs: possible reservoirs of endemic leishmaniases in tunisia. | rodents and dogs are the confirmed leishmaniases reservoir hosts in tunisia. recently, we described hedgehog leishmania (l.) major and l. infantum infection in an l. infantum endemic area in the north-west. in order to assess if the observation could extend to other endemic areas and to highlight the potential role of hedgehogs as reservoir host, we aimed here at investigating their leishmania infection in different foci in tunisia located along a north-south transect, during and outside differe ... | 2018 | 29860099 |
| comparative and evolutionary analysis of the reptilian hedgehog gene family (shh, dhh, and ihh). | the hedgehog signaling pathway plays a vital role in human and animal patterning and cell proliferation during the developmental process. the hedgehog gene family of vertebrate species includes three genes, shh, dhh, and ihh, which possess different functions and expression patterns. despite the importance of hedgehog genes, genomic evidence of this gene family in reptiles is lacking. in this study, the available genomes of a number of representative reptile species were explored by utilizing ad ... | 2019 | 31531274 |
| 46,xy complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (dhh) gene. | disorders of sex development (dsd) have been linked to gene defects that lead to gonadal dysgenesis. herein, we aimed to identify the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea tracing it to a phenotypic female carrying a 46,xy karyotype of a consanguineous family. | 2019 | 31240586 |
| functionally distinctive ptch receptors establish multimodal hedgehog signaling in the tooth epithelial stem cell niche. | continuous growth of the mouse incisor teeth is due to the life-long maintenance of epithelial stem cells (scs) in their niche called cervical loop (cl). several signaling factors regulate sc maintenance and/or their differentiation to achieve organ homeostasis. previous studies indicated that hedgehog signaling is crucial for both the maintenance of the scs in the niche, as well as for their differentiation. how hedgehog signaling regulates these two opposing cellular behaviors within the confi ... | 2019 | 31145830 |
| hedgehog signaling and embryonic craniofacial disorders. | since its initial discovery in a drosophila mutagenesis screen, the hedgehog pathway has been revealed to be instrumental in the proper development of the vertebrate face. vertebrates possess three hedgehog paralogs: sonic hedgehog (shh), indian hedgehog (ihh), and desert hedgehog (dhh). of the three, shh has the broadest range of functions both in the face and elsewhere in the embryo, while ihh and dhh play more limited roles. the hedgehog pathway is instrumental from the period of prechordal p ... | 2019 | 31022843 |
| functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,xy differences of sex development. | desert hedgehog (dhh) gene variants are known to cause 46,xy differences/disorders of sex development (dsd). we have identified six patients with 46,xy dsd with seven novel dhh gene variants. many of these variants were classified as variants of uncertain significance due to their heterozygosity or associated milder phenotype. to assess variant pathogenicity and to refine the spectrum of dsds associated with this gene, we have carried out the first reported functional testing of dhh gene variant ... | 2019 | 31018998 |
| a novel, homozygous mutation in desert hedgehog (dhh) in a 46, xy patient with dysgenetic testes presenting with primary amenorrhoea: a case report. | desert hedgehog (dhh) mutations have been described in only a limited number of individuals with 46, xy disorders of sex development (dsd) presenting as either partial or complete gonadal dysgenesis. gonadal tumours and peripheral neuropathy have been associated with dhh mutations. herein we report a novel, homozygous mutation of dhh identified through a targeted, massively parallel sequencing (mps) dsd panel, in a patient presenting with partial gonadal dysgenesis. this novel mutation is two am ... | 2018 | 29507583 |
| hedgehog signaling in gastrointestinal carcinogenesis and the gastrointestinal tumor microenvironment. | the hedgehog (hh) signaling pathway plays important roles in gastrointestinal carcinogenesis and the gastrointestinal tumor microenvironment (tme). aberrant hh signaling activation may accelerate the growth of gastrointestinal tumors and lead to tumor immune tolerance and drug resistance. the interaction between hh signaling and the tme is intimately involved in these processes, for example, tumor growth, tumor immune tolerance, inflammation, and drug resistance. evidence indicates that inflamma ... | 2020 | 33777671 |
| characteristics and demography of a free-ranging ethiopian hedgehog, paraechinus aethiopicus, population in qatar. | information on population characteristics of paraechinusis is valuable for ensuring long term survival of populations, however, studies are currently lacking. here we investigate the population dynamics of ethiopian hedgehogs based on a capture-mark-recapture study in qatar by fitting jolly-seber and cormack-jolly-seber models. over the 19 months of the study, we estimate a mean population of 60 hedgehogs, giving a density of 7 hedgehogs per km2 in our 8.5 km2 search area. the monthly abundance ... | 2020 | 32486289 |