| [Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants]. | [Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants].
Zhang C, Chen L, Chen X, Xie R, Wang F, Chen T, Wang X, Sun H, Zhang D, Wu H. | 03/8/2023 |
| IGSF1 mutation as a cause of isolated central hypothyroidism. | IGSF1 mutation as a cause of isolated central hypothyroidism.
Costas Eimil J, Sánchez-Sobrino P. | 03/3/2023 |
| IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. | IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B, Edouard T, Raverot G, Barlier A, Brue T, Castinetti F, Saveanu A. | 11/12/2022 |
| Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family. | Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
Fourneaux R, Castets S, Godefroy A, Grelet M, Abeillon-du Payrat J, Saveanu A, Castinetti F, Reynaud R. | 10/22/2022 |
| Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations. | Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.
Elizabeth MSM, Hokken-Koelega A, Visser JA, Joustra SD, de Graaff LCG., Free PMC Article | 07/30/2022 |
| IGSF1 defect was the leading genetic cause of Congenital Isolated TSH Deficiency. | Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.
Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. | 06/6/2020 |
| somatotrope neurosecretory hyperfunction in IGSF1-deficient humans and mice. | IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.
Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Duncan Bassett JH, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N., Free PMC Article | 02/15/2020 |
| A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity. | A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.
Nishigaki S, Hamazaki T, Fujita K, Morikawa S, Tajima T, Shintaku H. | 02/17/2018 |
| We identified a novel insertion mutation in the IGSF1 gene and further delineated the phenotype of the IGSF1-deficiency syndrome. Our findings indicate a possible association between an IGSF1 mutation and neurological phenotypes. | Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
Tenenbaum-Rakover Y, Turgeon MO, London S, Hermanns P, Pohlenz J, Bernard DJ, Bercovich D. | 02/17/2018 |
| Individuals with identical IGSF1 deletions can exhibit variable pituitary hormone deficiencies, of which overt TSH deficiency is the most consistent feature | Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.
Hughes JN, Aubert M, Heatlie J, Gardner A, Gecz J, Morgan T, Belsky J, Thomas PQ. | 10/14/2017 |
| IGSF1 Deficiency is associated with X-linked IGSF1 deficiency syndrome. | IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W, IGSF1 Clinical Care Group., Free PMC Article | 06/10/2017 |
| Adult male patients with IGSF1 deficiency exhibit mild deficits in attentional control on formal testing. | Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome.
Joustra SD, Andela CD, Oostdijk W, van Trotsenburg AS, Fliers E, Wit JM, Pereira AM, Middelkoop HA, Biermasz NR. | 05/6/2017 |
| This case suggests that more attention should be paid to intrauterine growth and birth history when patients are suspected of having an IGSF1 mutation | Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.
Asakura Y, Abe K, Muroya K, Hanakawa J, Oto Y, Narumi S, Hasegawa T, Adachi M. | 08/27/2016 |
| There is insufficient evidence to conclude that the three observed VUCSs in IGSF1 are associated with CDGP, making it unlikely that IGSF1 mutations are a prevalent cause of CDGP. | IGSF1 variants in boys with familial delayed puberty.
Joustra SD, Wehkalampi K, Oostdijk W, Biermasz NR, Howard S, Silander TL, Bernard DJ, Wit JM, Dunkel L, Losekoot M. | 02/27/2016 |
| Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. | Is IGSF1 involved in human pituitary tumor formation?
Faucz FR, Horvath AD, Azevedo MF, Levy I, Bak B, Wang Y, Xekouki P, Szarek E, Gourgari E, Manning AD, de Alexandre RB, Saloustros E, Trivellin G, Lodish M, Hofman P, Anderson YC, Holdaway I, Oldfield E, Chittiboina P, Nesterova M, Biermasz NR, Wit JM, Bernard DJ, Stratakis CA., Free PMC Article | 08/8/2015 |
| Data suggest male subjects with IGSF1 deficiency syndrome exhibit X-linked congenital/central hypothyroidism, delayed puberty, macro-orchidism, hypoprolactinemia, metabolic syndrome, and transient partial growth hormone deficiency. [CASE REPORTS] | The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. | 04/19/2014 |
| Our findings provide additional genetic evidence that loss-of-function mutations in IGSF1 cause an X-linked form of C-CH and variable prolactin deficiency. | Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.
Nakamura A, Bak B, Silander TL, Lam J, Hotsubo T, Yorifuji T, Ishizu K, Bernard DJ, Tajima T. | 12/14/2013 |
| Using exome and candidate gene sequencing, 8 distinct mutations and 2 deletions in IGSF1 were identified in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations. | Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ., Free PMC Article | 02/16/2013 |
| IgSF1 is processed through sequential proteolysis by signal peptidase and signal peptide peptidase | An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein.
Robakis T, Bak B, Lin SH, Bernard DJ, Scheiffele P., Free PMC Article | 01/21/2010 |