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TGF-β signaling in testicular development, spermatogenesis, and infertility
Published in Rajender Singh, Molecular Signaling in Spermatogenesis and Male Infertility, 2019
Poonam Mehta, Meghali Joshi, Rajender Singh
Growth factors and other member proteins showing at least 25% homology to TGF-β were included in the TGF-β family. This family includes approximately 40 members, which share similar features, i.e., conserved cysteine residues (such as TGF-β 1–3 and inhibin β polypeptides that have nine characteristic cysteines, bone morphogenetic protein [BMPs] and growth differentiation factors [GDFs] that have seven and remaining BMP15A, GDF3, GDF9 that have six cysteines), which helps in intermolecular interaction for ligand dimerization and structural integrity. Ligands exist both as homo- and heterodimers. The members of this superfamily include transforming growth factor β 1–3 (TGF-βs), inhibins and activins, BMPs, Müllerian inhibiting substance (MIS), also called anti-Müllerian hormone (AMH), GDFs and glial cell line-derived neurotrophic factor (GDNF) (7). These subfamilies have more members (Table 11.1), which have different cell functions depending upon their type, concentration, target tissue and developmental stage (8).
Regulation of fertility and infertility in humans
Published in C. Yan Cheng, Spermatogenesis, 2018
Nahid Punjani, Ryan Flannigan, Peter N. Schlegel
During embryologic development, PGCs arise from the extraembryonic tissues adjacent to the yolk sac. Migration to the gonadal ridge occurs at 3 to 5 weeks, and differentiation to gonocytes occurs via inducible factors mediated by Sertoli cells (SCs).18,19 Gonocytes remain mitotically inactive until birth, where they differentiate into spermatogonia (SPG) within the seminiferous tubules over the following 6 months. This is mediated by a number of factors, including stromal cell derived factor 1 (SDF-1), activator protein-2 (AP-2), stem cell factor (SCF), growth and differentiation factor 3 (GDF3), retinoic acid, estradiol, and DNA methylation changes.20–29 SPGs remain quiescent until 5–7 years of age, where proliferation occurs followed by a combination of proliferation and differentiation during puberty with the onset of spermatogenesis.30,31
Latest developments in engineered skeletal muscle tissues for drug discovery and development
Published in Expert Opinion on Drug Discovery, 2023
Serge Ostrovidov, Murugan Ramalingam, Hojae Bae, Gorka Orive, Toshinori Fujie, Xuetao Shi, Hirokazu Kaji
In the differentiation phase, myoblasts extensively fuse to form myofibers, whereas some SCs return to quiescence. The SC niche changes in its heparan sulfate content and therefore in the growth factor (e.g. FGF2 and HGF) signaling [131], whereas different cell types support myoblast differentiation. Thus, IGF2 directly promotes myoblast differentiation [132]. FAPs promote myoblast differentiation by IL-6 secretion [133] and then later decrease in number by apoptosis induced by macrophages secreting TNFα [134]. Moreover, pericytes are also involved in muscle fiber formation [120]. Furthermore, in macrophages, the peroxisome proliferator activated receptor ϒ (PPARϒ) controls the growth differentiation factor 3 (GDF3), which promotes SC fusion [135]. There is an intense cell-cell communication to ensure myofiber regeneration, reinnervation, and vascularization.
Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F
Published in Ophthalmic Genetics, 2018
Ehab Abdelkader, Sara AlHilali, Christine Neuhaus, Carsten Bergmann, Tahani AlMurshed, Patrik Schatz
Molecular genetic testing was done for the patient using next-generation sequencing (NGS, Illumina HiSeq 1500, performed by Center for Human Genetics, Bioscientia, Ingelheim, Germany) of the known genes involved in rod–cone dystrophy, cone–rod dystrophy, macular dystrophy, and cone dystrophy comprising 715 exons of 45 genes. Testing for the microphthamia panel was also conducted (GDF3, GDF6, MAF, OTX2, SHH, and VSX2) (8–11): The resulting sequence data for the CACNA1F gene (OMIM 300110; Locus: Chromosome Xp11.23) were compared to the reference sequence NM_005183.3 and for the RGS9BP gene (OMIM 607814; Locus Chromosome 19q13.11) to the reference sequence NM_207391.2. Direct sequencing of CACNA1F was performed for both parents. NGS revealed a hemizygous missense variant c.3401G>A (p.Gly1134Asp) in exon 28 of CACNA1F in the 7 year old boy. His mother was found to be a heterozygous carrier of the same variant, whereas the father did not carry any mutations in CACNA1F.
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.