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Hedgehog signaling in spermatogenesis and male fertility
Published in Rajender Singh, Molecular Signaling in Spermatogenesis and Male Infertility, 2019
Sandeep Kumar Bansal, Meghali Joshi, Rajender Singh
Post-translation, HH proteins are extensively modified and released by the cell with the help of dispatched, a membrane transporter protein. Among hedgehog proteins, Shh is most widely expressed in vertebrates. Shh has its paracrine activity, which is the most common mode of signal transduction. However, HH also transduces signals in an autocrine manner. In the absence of HH ligand, patched 1(PTCH1) binds to smoothened (SMO) and represses it. In this situation, the GLI proteins (GLI2 and GLI3) are phosphorylated by casein kinase 1α (CK1), protein kinase A (PKA) and glycogen synthase kinase 3β (GSK3β), which leads to its partial proteolytic cleavage and removal of the C-terminal “activator” domain, resulting in the repressor forms (GLI2R and GLI3R), which in turn suppress the expression of HH target genes in the nucleus. In the presence of HH ligand, Hh binds to its receptor PTCH proteins and co-receptors CDO (cell adhesion molecule-related/downregulated by oncogenes), releasing ptch inhibition on smo. Now smo is phosphorylated by mainly CK1 and GRK2. Smo accumulates on the cell surface. Sufu is the major negative regulator of the pathway (kif7 is a minor one). In the presence of Hh, Sufu becomes destabilized and is degraded, which releases its repression on Gli. Gli proteins translocate to the nucleus and induce the expression of HH target genes. Hedgehog signaling is depicted in Figure 13.2.
Angiogenesis and Roles of Adhesion Molecules in Psoriatic Disease
Published in Siba P. Raychaudhuri, Smriti K. Raychaudhuri, Debasis Bagchi, Psoriasis and Psoriatic Arthritis, 2017
Asmita Hazra, Saptarshi Mandal
This is another developmental pathway known to be involved in the regenerative process. One expression study showed increased expression of Shh, Kif7, and Gli1, and decreased SUFU and Gli3 RNA isolated from lesional epidermis, suggesting increased activity of the hedgehog pathway (Man and Zheng 2015).
A new set of clinical tools for physicians
Published in Priya Hays, Advancing Healthcare Through Personalized Medicine, 2017
There are too many examples of WES successes to list all of them here, which can be placed in different categories based on the types of genes discovered. WES is shown to be cost-effective and clinically useful. Sanger sequencing costs are about $1000 for the average gene. WES for very “genetically heterogeneous” disorders (i.e., caused by one of a potentially large number of genes), including familial amyotrophic lateral sclerosis (ALS), caused by 15 different genes; autosomal recessive deafness, caused by 39 genes; and Leigh’s encephalopathy, caused by 35 genes. Studies of multiple family members with the same phenotypes led to the discovery of mutation in known genes, thus expanding their known phenotypes: familial leukemia, germline p53 mutations found; fatal infantile encephalopathy, SLC19A3; autosomal dominant distal myopathy, tropomysin; two members of a consanguineous family with macrocephaly and epiphyseal dysplasia, KIF7; and two relatives with osteoporosis, CLCN7 (confirmed by finding cosegregation among four other family members).
Patched 1 and C-C Motif Chemokine Receptor 6 Distinguish Heterogeneous T Helper 17 Subsets in Colitic Lamina Propria
Published in Immunological Investigations, 2023
Shengli Pei, Chao Ke, Jiantao Han, Xingwang Xie
The Hedgehog signaling is an evolutionarily conserved pathway playing critical roles in tissue development and homeostasis (Briscoe and Therond 2013). Hedgehog proteins, including Sonic hedgehog (SHH), Indian hedgehog (IHH), and Desert hedgehog (DHH), prompt diverse cellular reactions such as survival, proliferation, and differentiation (Briscoe and Therond 2013). In canonical Hedgehog signaling, hedgehog proteins bind to the receptor Patched 1 (PTCH1), resulting in derepression of Smoothened (SMO) and subsequent dissociation of Gli proteins (Gli1, Gli2, and Gli3) from an inhibitory complex comprising Kinesin Family Member 7 (Kif7) and Suppressor of fused protein (SUFU). Gli proteins are then processed into transcriptional factors and enter the nucleus to trigger the expression of target genes such as Ptch1 and Gli1. The impact of the Hedgehog signaling to mature T lymphocytes remains poorly understood, although previous studies suggest the involvement of the Hedgehog signaling in the activation of and cytokine expression by CD4+ T cells (Stewart et al. 2002), Th2 differentiation (Yanez et al. 2019), and cytotoxic T lymphocyte function (de la Roche ATR et al. 2013). Previous studies have suggested that the Hedgehog signaling drives differentiation and effector function of Th17 cells and is associated with the occurrence and progression of IBD (Hanna et al. 2022, 2022; Lees et al. 2008; Xie et al. 2021).
Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing
Published in Ophthalmic Genetics, 2021
The genes in the large panel (Panel-II) containing 230 genes are listed as ABCA4, ACOX1, ADGRV1, AGXT, AHI1, AIPL1, AMACR, APOB, APOC2, APOE, ARL13B, ARL6, ARX, ASPA, ATXN2, ATXN7, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BEST1, BSND, BTD, CACNA1A, CBS, CC2D2A, CDH23, CDH3, CDHR1, CDKL5, CENPJ, CEP152, CEP164, CEP290, CEP41, CERKL, CFH, CHST6, CLDN14, CLDN19, CLN3, CLN5, CLN6, CLRN1, CNGA1, CNGB1, CNGB3, COL11A1, COL9A1, COL9A2, COQ2, CRB1, CRX, CTNS, CTSD, CYP4V2, DHDDS, DNM2, EDN3, EDNRB, ENPP1, ERCC4, ERCC6, ERCC8, ESPN, ESRRB, EYS, FIG4, FKRP, FKTN, G6PC, GBA, GCDH, GJB2, GJB3, GJB6, GLB1, GNPTAB, GPR143, GRXCR1, GUCY2D, HADHA, HADHB, HBB, HEXA, HEXB, HGF, HGSNAT, HSD17B4, IDH3B, IDS, IDUA, IFT80, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, ISPD, KCNJ13, KCNQ2, KCNV2, KIF7, LHFPL5, LOXHD1, LPL, LRAT, LRP5, LRTOMT, MAK, MAN2B1, MARVELD2, MBTPS2, MCOLN1, MEFV, MERTK, MFRP, MFSD8, MKKS, MKS1, MMACHC, MVK, MYO15A, MYO3A, MYO6, MYO7A, NMNAT1, NPHP1, NPHP3, NPHP4, NYX, OAT, OCA2, OCRL, OFD1, OTOA, OTOF, PAX3, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDSS2, PDZD7, PEX1, PEX10, PEX12, PEX13, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLOD1, POMGNT1, POMGNT2, POMT1, POMT2, PPT1, PRCD, PROM1, PRRT2, RAX, RDH12, RDX, RGR, RHO, RLBP1, RP2, RPE65, RPGR, RPGRIP1L, SACS, SCN1A, SCN2A, SDCCAG8, SEMA4A, SIX6, SLC25A15, SLC25A22, SLC26A4, SLC26A5, SLC37A4, SLC45A2, SMPD1, SNAI2, SPG11, STRA6, STRC, SUMF1, TBC1D24, TCTN1, TCTN3, TECTA, TMC1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMIE, TMPRSS3, TPP1, TPRN, TRIM32, TRIOBP, TTC21B, TULP1, TYR, UQCRB, UQCRQ, USH1C, USH1G, USH2A, WDR19, WFS1, ZFYVE26 and ZNF423.
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
Published in Ophthalmic Genetics, 2021
Mustafa Doğan, Recep Eröz, Emrah Öztürk
Furthermore, genes associated with eye diseases (listed below) were reevaluated. RB1, PGAP1, CLPB, IFT172, RAX, SLC4A4, GJA1, TBK1, GNAT2, GJA3, CSPP1, CYP1B1, HOXA1, LRAT, GJA8, GNAT1, GPR179, PRKCG, MECR, CACNA2D4, RBP4, RBP3, IFT81, TMEM126A, HOXB1, FREM1, ATF6, FREM2, OPTN, RD3, CFH, ABCB6, PLA2G5, RDH12, RDH11, TTPA, ADAMTS18, HESX1, PROM1, PLK4, JAG1, FZD4, ABCA4, SLC16A12, NR2F1, BBIP1, GNPTG, GJB2, ARL2BP, GJB6, MKS1, PPT1, UNC119, CHM, GLI2, PQBP1, SHH, TCTN3, TCTN2, C1QTNF5, TCTN1, FLVCR1, TIMP3, TEAD1, OFD1, CHST6, WDR36, ELOVL4, MYOC, CRPPA, IFT140, ROM1, PAX6, FAM126A, PAX2, COL2A1, ZEB1, PXDN, RARB, PIGL, CRYAA, RGR, CRYAB, CRB1, GRN, OAT, CTDP1, COL11A1, NTF4, TMEM67, CHN1, RHO, GCNT2, SPP2, MFN2, ZNF469, HARS, JAM3, GSN, WHRN, AGK, WDR19, AGBL5, TTLL5, AGBL1, NMNAT1, SMOC1, ALMS1, CEP41, GUCA1B, GUCA1A, BEST1, ABHD12, RIMS1, CDH3, EFEMP1, SALL2, TUBB3, SALL4, CEP250, NEK2, MTPAP,PITX2, PITX3, SLC25A46, MITF, KERA, LEMD2, MAF, DGKQ, MAK, ADAM9, FSCN2, SNRNP200, FTL, COL17A1, ARL6, ARL3, TACSTD2, SPATA7, NEUROD1, PORCN, LOXHD1, ATXN7, TTC21B, PGK1, NDP, SLC38A8, ZNF423, IMPG1, IMPG2, STRA6, WFS1, SRD5A3, SLC4A11, RAX2, BFSP2, BFSP1, LRIT3, TUBGCP6, TPP1, REEP6, TUBGCP4, ACO2, CEP164, POMT1, TSPAN12, RLBP1, KIAA1549, OPA1, ZNF408, OPA3, IDH3B, CNGA1, CNGA3, CEP290, IDH3A, IQCB1, UNC45B, ADGRV1, VPS13B, FOXL2, RP1, MFRP, RRM2B, RP2, DNAJC5, CNGB3, ZNF513, RP9, CNGB1, SLC24A1, PRPS1, CANT1, PRCD, USH1C, CRX, LRP5, SEMA3E, TULP1, TTR, ARL13B, OR2W3, NHS, IARS2, RAB28, DRAM2, CNNM4, TUB, SEMA4A, KCNJ13, MERTK, USH2A, GFER, RPGRIP1, FRAS1, USH1G, IMPDH1, MAB21L2, RAB18, BCOR, TRIM32, MMACHC, C12orf57, PANK2, CISD2, ACTB, PEX26, SOX2, RS1, KIF21A, HMCN1, SIL1, C12orf65, EYS, SOX5, ACVR1, KRT3, P3H2, ADGRA3, MYO7A, OVOL2, MIP, COL8A2, WDPCP, EPHA2, CERKL, MTTP, PEX11B, PCDH15, TRPM1, INPP5E, DHX38, BBS2, BBS1, TREX1, SLC33A1, CPLANE1, GDF3, GDF6, RPE65, COL9A1, ITM2B, VSX1, VSX2, INVS, COL18A1, ROBO3, FOXE3, TENM3, SLC7A14, HCCS, KIF11, SIPA1L3, AUH, SH3PXD2B, BBS9, CTSF, BBS7, CC2D2A, CTSD, BBS5, BBS4 PCYT1A, KIF7, TOPORS, BBS10, BBS12, PITPNM3, CLDN19, RDH5, KIZ, HMX1, SDCCAG8, YAP1, FOXC1, GUCY2D, CRYBA2, CRYBA1, CRYBA4, EMC1, CTNNA1, HSF4, PEX16, PEX19, CRYBB1, CRYBB3, CRYBB2, KRT12, PEX10, PEX12, VAX1, PEX13, PEX14, RP1L1, TTC8, KLHL7, RAB3GAP2, CTNNB1, PRPF31, B9D1, B9D2, RTN4IP1, PNPLA6, RAB3GAP1, PRDM5, CIB2, NRL, MSMO1, LOXL1, GRIP1, CAPN5, RGS9, SBF2, PHYH, OCRL, RPGRIP1L, TRNT1, CFAP410, PRSS56, LZTFL1, KCTD7, DHDDS, PRPF4, PRPF6, FAM161A, TBC1D20, RGS9BP, COL4A1, TMEM138, PRPF3, CHMP4B, LMX1B, AIPL1, UBIAD1, CABP4, LTBP2, ADIPOR1, CACNA1F, PRPF8, GRK1, KCNV2, NPHP1, CDH23, NPHP3, NPHP4, OTX2, PDZD7, TFAP2A, ACBD5, CAV1, TDRD7, BMP7, TMEM231, PHOX2A, C8orf37, BMP4, AHI1, AMACR, COL5A1, PRPH2, TMEM237, MIR184, IFT27, GNB3, CRYL1, TCF4, TGFBI, GALK1, RERE, NGLY1, CHD7, NR2E3, HK1, RPGR, MFSD8, FYCO1, SIX6, ZIC2, GRM6, CA2, CYP4V2, SIX3, CA4, ABCD1, POLG, TGIF1, HGSNAT, MKKS, ABCC6, ARHGEF18, PEX2, PEX1, POMGNT1, LSS, DCN, ALDH1A3, PEX7, VCAN, PEX3, TMEM216, PEX6, CDHR1, PEX5, SAG, NDUFS1, CLRN1, DTHD1, MVK, LAMA1, LCAT, SPG7, CLN8, CLN6, CLN5, ATOH7, CLN3, PDE6D, POC1B, PDE6C, PDE6B, PDE6A, IGBP1, CRYGS, TIMM8A, LIM2, NAA10, EYA1, PDE6H, PDE6G, PCARE, LCA5, NYX, CRYGC, SLC4A7, CRYGD, PIKFYVE, CRYGB, ERCC1, ERCC2, ERCC5, ERCC6, VIM, HCN1.