Ask about this productRelated genes to: PCDHGC4 Blocking Peptide
- Gene:
- PCDHGC4 NIH gene
- Name:
- protocadherin gamma subfamily C, 4
- Previous symbol:
- -
- Synonyms:
- PCDH-GAMMA-C4
- Chromosome:
- 5q31.3
- Locus Type:
- protocadherin
- Date approved:
- 2000-06-28
- Date modifiied:
- 2016-10-05
Related products to: PCDHGC4 Blocking Peptide
Related articles to: PCDHGC4 Blocking Peptide
- The γ-protocadherins (γ-Pcdhs) comprise 22 homophilic cell adhesion molecule isoforms, expressed from the Pcdhg gene cluster via promoter choice mechanisms that serve many crucial functions during neural development. Emerging evidence supports the hypothesis that distinct isoforms have unique functions. The γC4 isoform, which is expressed from the Pcdhgc4 promoter and includes its unique variable exon, is the sole γ-Pcdh isoform essential for the postnatal survival in mice. Here we describe a new mouse line (C4-GFP) in which Pcdhgc4 with a C-terminal GFP tag is expressed from the Rosa26 locus following excision of a lox-Stop-lox cassette by Cre recombinase. We report that restricted expression of this transgene in the nervous system using Nestin-Cre is sufficient to rescue the neonatal lethality of mice mutant for Pcdhgc4. This new line will be a vital tool for dissecting mechanisms underlying the functions of this essential cell adhesion molecule gene, mutations in which have been associated with neurodevelopmental disorders in humans. - Source: PubMed
McLeod Cathy MHanes Camille MFuller Leah CBhandari SamjhanaLanthier Hannah GBurgess Robert WWeiner Joshua AGarrett Andrew M - Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical presentations ranging from mild to severe presentation. Neurological disorders are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation, and cognition. The cerebellum might be involved at any time, either during development and maturation or later in life. Herein, we describe a spectrum of NDDs and NDs in seven patients from six Egyptian families. The core clinical and radiological features of our patients included dysmorphic features, neurodevelopmental delay or regression, gait abnormalities, skeletal deformities, visual impairment, seizures, and cerebellar atrophy. Previously unreported clinical phenotypic findings were recorded. Whole-exome sequencing (WES) was performed followed by an in silico analysis of the detected genetic variants' effect on the protein structure. Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX, and other previously reported three variants have been detected in "TPP1, AGTPBP1, and PCDHGC4" genes. In this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy, hence expanding the mutational spectrum of such disorders. - Source: PubMed
Publication date: 2023/12/28
Ashaat Engy AAhmed Hoda AElaraby Nesma MFayez AlaaeldinMetwally Ammal MMekkawy Mona KHussen Dalia FaroukAshaat Neveen AElhossini Rasha MElAwady Heba AhmedAbdelgawad Randa H AGammal Mona ElAl Kersh Mohamed AhmedSaleh Dina Amin - We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. - Source: PubMed
Publication date: 2021/07/09
Iqbal MariaMaroofian RezaÇavdarlı BüşranurRiccardi FlorenceField MichaelBanka SiddharthBubshait Dalal KLi YunHertecant JozefBaig Shahid MahmoodDyment DavidEfthymiou StephanieAbdullah UzmaMakhdoom Ehtisham Ul HaqAli ZafarScherf de Almeida TobiasMolinari FlorenceMignon-Ravix CécileChabrol BrigitteAntony JayneAdes LesleyPagnamenta Alistair TJackson AdamDouzgou Sofia Beetz ChristianKarageorgou VasilikiVona BarbaraRad AboulfazlBaig Jamshaid MahmoodSultan TipuAlvi Javeria RazaMaqbool ShaziaRahman FatimaToosi Mehran BeiraghiAshrafzadeh FarahImannezhad ShimaKarimiani Ehsan GhayoorSarwar YasraKhan SherazJameel MuhammadNoegel Angelika ABudde BirgitAltmüller JanineMotameny SusanneHöhne WolfgangHoulden HenryNürnberg PeterWollnik BerndVillard LaurentAlkuraya Fowzan SamiOsmond MatthewHussain Muhammad SajidYigit Gökhan - Airway remodeling in asthma is characterized by reticular basement membrane (RBM) thickening, likely related to epithelial structural and functional changes. Gene expression profiling of the airway epithelium might identify genes involved in bronchial structural alterations. We analyzed bronchial wall geometry (computed tomography (CT)), RBM thickness (histology), and the bronchial epithelium transcriptome profile (gene expression array) in moderate to severe persistent ( = 21) vs. no persistent ( = 19) airflow limitation asthmatics. RBM thickness was similar in the two studied subgroups. Among the genes associated with increased RBM thickness, the most essential were those engaged in cell activation, proliferation, and growth (e.g., , , , and ) and inhibiting apoptosis (e.g., higher mRNA expression of , , , and lower of , , ). Additionally, RBM thickness correlated with the expression of genes encoding extracellular matrix (ECM) components (, ), involved in ECM remodeling (), neovascularization (, ), nerve functioning (, ), oxidative stress adaptation (, ), epigenetic modifications (, ), and the innate immune response (, ). Cluster analysis revealed that genes linked with RBM thickness were also related to thicker bronchial walls in CT. Our study suggests that the pro-fibrotic profile in the airway epithelial cell transcriptome is associated with a thicker RBM, and thus, may contribute to asthma airway remodeling. - Source: PubMed
Publication date: 2021/01/20
Bazan-Socha StanislawaBuregwa-Czuma SylwiaJakiela BogdanZareba LechZawlik IzabelaMyszka AleksanderSoja JerzyOkon KrzysztofZarychta JacekKozlik PawełDziedzina SylwiaPadjas AgnieszkaWojcik KrzysztofKepski MichalBazan Jan G - Cortical function critically depends on inhibitory/excitatory balance. Cortical inhibitory interneurons (cINs) are born in the ventral forebrain and migrate into cortex, where their numbers are adjusted by programmed cell death. Here, we show that loss of clustered gamma protocadherins (), but not of genes in the alpha or beta clusters, increased dramatically cIN BAX-dependent cell death in mice. Surprisingly, electrophysiological and morphological properties of -deficient and wild-type cINs during the period of cIN cell death were indistinguishable. Co-transplantation of wild-type with -deficient interneuron precursors further reduced mutant cIN survival, but the proportion of mutant and wild-type cells undergoing cell death was not affected by their density. Transplantation also allowed us to test for the contribution of isoforms to the regulation of cIN cell death. We conclude that , specifically , , and , play a critical role in regulating cIN survival during the endogenous period of programmed cIN death. - Source: PubMed
Publication date: 2020/07/07
Mancia Leon Walter RSpatazza JulienRakela BenjaminChatterjee AnkitaPande VirajManiatis TomHasenstaub Andrea RStryker Michael PAlvarez-Buylla Arturo