IGSF1 deficiency syndrome

References

• Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, et al. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet 2012; 44:1375 - 81; http://dx.doi.org/10.1038/ng.2453; PMID: 23143598
   PubMed Web of Science ®Google Scholar
• Mazzarella R, Pengue G, Jones J, Jones C, Schlessinger D. Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25. Genomics 1998; 48:157 - 62; http://dx.doi.org/10.1006/geno.1997.5156; PMID: 9521868
   PubMed Web of Science ®Google Scholar
• Frattini A, Faranda S, Redolfi E, Allavena P, Vezzoni P. Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25. Gene 1998; 214:1 - 6; http://dx.doi.org/10.1016/S0378-1119(98)00253-4; PMID: 9729118
   PubMed Web of Science ®Google Scholar
• Robakis T, Bak B, Lin SH, Bernard DJ, Scheiffele P. An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein. J Biol Chem 2008; 283:36369 - 76; http://dx.doi.org/10.1074/jbc.M807527200; PMID: 18981173
   PubMed Web of Science ®Google Scholar
• Bernard DJ, Woodruff TK. Inhibin binding protein in rats: alternative transcripts and regulation in the pituitary across the estrous cycle. Mol Endocrinol 2001; 15:654 - 67; http://dx.doi.org/10.1210/me.15.4.654; PMID: 11266515
   PubMed Web of Science ®Google Scholar
• Chapman SC, Bernard DJ, Jelen J, Woodruff TK. Properties of inhibin binding to betaglycan, InhBP/p120 and the activin type II receptors. Mol Cell Endocrinol 2002; 196:79 - 93; http://dx.doi.org/10.1016/S0303-7207(02)00227-7; PMID: 12385827
   PubMed Web of Science ®Google Scholar
• Bernard DJ, Burns KH, Haupt B, Matzuk MM, Woodruff TK. Normal reproductive function in InhBP/p120-deficient mice. Mol Cell Biol 2003; 23:4882 - 91; http://dx.doi.org/10.1128/MCB.23.14.4882-4891.2003; PMID: 12832474
   PubMed Web of Science ®Google Scholar
• Aricescu AR, Jones EY. Immunoglobulin superfamily cell adhesion molecules: zippers and signals. Curr Opin Cell Biol 2007; 19:543 - 50; http://dx.doi.org/10.1016/j.ceb.2007.09.010; PMID: 17935964
   PubMed Web of Science ®Google Scholar
• Barclay AN. Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules. Semin Immunol 2003; 15:215 - 23; http://dx.doi.org/10.1016/S1044-5323(03)00047-2; PMID: 14690046
   PubMed Web of Science ®Google Scholar
• Xu Z, Jin B. A novel interface consisting of homologous immunoglobulin superfamily members with multiple functions. Cell Mol Immunol 2010; 7:11 - 9; http://dx.doi.org/10.1038/cmi.2009.108; PMID: 20081873
   PubMed Web of Science ®Google Scholar
• Katidou M, Vidaki M, Strigini M, Karagogeos D. The immunoglobulin superfamily of neuronal cell adhesion molecules: lessons from animal models and correlation with human disease. Biotechnol J 2008; 3:1564 - 80; http://dx.doi.org/10.1002/biot.200800281; PMID: 19072911
   PubMedGoogle Scholar
• Irintchev A, Schachner M. The Injured and Regenerating Nervous System: Immunoglobulin Superfamily Members as Key Players. Neuroscientist 2011; 18:452 - 66; http://dx.doi.org/10.1177/1073858411419047; PMID: 21903634
   PubMed Web of Science ®Google Scholar
• van Tijn DA, de Vijlder JJ, Verbeeten B Jr., Verkerk PH, Vulsma T. Neonatal detection of congenital hypothyroidism of central origin. J Clin Endocrinol Metab 2005; 90:3350 - 9; http://dx.doi.org/10.1210/jc.2004-2444; PMID: 15784706
   PubMed Web of Science ®Google Scholar
• Lanting CI, van Tijn DA, Loeber JG, Vulsma T, de Vijlder JJ, Verkerk PH. Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program. Pediatrics 2005; 116:168 - 73; http://dx.doi.org/10.1542/peds.2004-2162; PMID: 15995048
   PubMed Web of Science ®Google Scholar
• LaFranchi SH. Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis 2010; 33:Suppl 2 S225 - 33; http://dx.doi.org/10.1007/s10545-010-9062-1; PMID: 20195902
   PubMedGoogle Scholar
• Denef C. Paracrinicity: the story of 30 years of cellular pituitary crosstalk. J Neuroendocrinol 2008; 20:1 - 70; http://dx.doi.org/10.1111/j.1365-2826,2007.01616; PMID: 18081553
   PubMed Web of Science ®Google Scholar
• Bonomi M, Busnelli M, Beck-Peccoz P, Costanzo D, Antonica F, Dolci C, et al. A family with complete resistance to thyrotropin-releasing hormone. N Engl J Med 2009; 360:731 - 4; http://dx.doi.org/10.1056/NEJMc0808557; PMID: 19213692
   PubMed Web of Science ®Google Scholar
• Bonomi M, Proverbio MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. J Clin Endocrinol Metab 2001; 86:1600 - 4; http://dx.doi.org/10.1210/jc.86.4.1600; PMID: 11297590
   PubMed Web of Science ®Google Scholar
• Goede J, Hack WW, Sijstermans K, van der Voort-Doedens LM, Van der Ploeg T, Meij-de Vries A, et al. Normative values for testicular volume measured by ultrasonography in a normal population from infancy to adolescence. Horm Res Paediatr 2011; 76:56 - 64; http://dx.doi.org/10.1159/000326057; PMID: 21464560
   PubMed Web of Science ®Google Scholar
• Tajima T, Nakamura A, Ishizu K. A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism. [Rapid Communication] Endocr J 2013; 60:245 - 9; http://dx.doi.org/10.1507/endocrj.EJ13-0009; PMID: 23363888
   PubMed Web of Science ®Google Scholar
• Diamond JM. Ethnic differences. Variation in human testis size. Nature 1986; 320:488 - 9; http://dx.doi.org/10.1038/320488a0; PMID: 3083267
   PubMed Web of Science ®Google Scholar
• Slegtenhorst-Eegdeman KE, de Rooij DG, Verhoef-Post M, van de Kant HJ, Bakker CE, Oostra BA, et al. Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development. Endocrinology 1998; 139:156 - 62; http://dx.doi.org/10.1210/en.139.1.156; PMID: 9421410
   PubMed Web of Science ®Google Scholar
• Castro NH, dos Santos RC, Nelson R, Beçak W, Hane B, Lindsey CJ, et al. Shashi XLMR syndrome: report of a second family. Am J Med Genet A 2003; 118A:49 - 51; http://dx.doi.org/10.1002/ajmg.a.10888; PMID: 12605440
   PubMed Web of Science ®Google Scholar
• Mendicino A, Sabbadini G, Pergola MS. Clark-Baraitser syndrome: report of a new case and review of the literature. Clin Dysmorphol 2005; 14:133 - 5; http://dx.doi.org/10.1097/00019605-200507000-00005; PMID: 15930902
   PubMed Web of Science ®Google Scholar
• Holsberger DR, Cooke PS. Understanding the role of thyroid hormone in Sertoli cell development: a mechanistic hypothesis. Cell Tissue Res 2005; 322:133 - 40; http://dx.doi.org/10.1007/s00441-005-1082-z; PMID: 15856309
   PubMed Web of Science ®Google Scholar
• Weber G, Vigone MC, Stroppa L, Chiumello G. Thyroid function and puberty. J Pediatr Endocrinol Metab 2003; 16:Suppl 2 253 - 7; PMID: 12729400
   PubMed Web of Science ®Google Scholar
• Ruvalcaba RH, Castro-Magana M, Angulo M. Macrotestes associated with hyperprolactinemia. J Pediatr Endocrinol Metab 1996; 9:617 - 22; http://dx.doi.org/10.1515/JPEM.1996.9.6.617; PMID: 9004178
   PubMed Web of Science ®Google Scholar
• Zhao Y, Hou WG, Zhu HP, Zhao J, Wang RA, Xu RJ, et al. Expression of thyrotropin-releasing hormone receptors in rat testis and their role in isolated Leydig cells. Cell Tissue Res 2008; 334:283 - 94; http://dx.doi.org/10.1007/s00441-008-0680-y; PMID: 18795335
   PubMed Web of Science ®Google Scholar
• Sharpe RM, McKinnell C, Kivlin C, Fisher JS. Proliferation and functional maturation of Sertoli cells, and their relevance to disorders of testis function in adulthood. Reproduction 2003; 125:769 - 84; http://dx.doi.org/10.1530/rep.0.1250769; PMID: 12773099
   PubMed Web of Science ®Google Scholar
• Kim HR, Jeon BH, Lee HS, Im SH, Araki M, Araki K, et al. IGSF4 is a novel TCR ζ-chain-interacting protein that enhances TCR-mediated signaling. J Exp Med 2011; 208:2545 - 60; http://dx.doi.org/10.1084/jem.20110853; PMID: 22084409
   PubMed Web of Science ®Google Scholar