Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

Item
http://www.wikidata.org/entity/Q29543151
Recent advances in central congenital hypothyroidismNeonatal screening and a new cause of congenital central hypothyroidismIs IGSF1 involved in human pituitary tumor formation?The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoproteinDelayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Central hypothyroidism - a neglected thyroid disorder.TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene.From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function.Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.
P2860

Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

Item
http://www.wikidata.org/entity/Q29543151
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Three NovelIGSF1Mutations in F ...... genital Central Hypothyroidism
@ast
Three NovelIGSF1Mutations in F ...... genital Central Hypothyroidism
@en
type
label
Three NovelIGSF1Mutations in F ...... genital Central Hypothyroidism
@ast
Three NovelIGSF1Mutations in F ...... genital Central Hypothyroidism
@en
prefLabel
Three NovelIGSF1Mutations in F ...... genital Central Hypothyroidism
@ast
Three NovelIGSF1Mutations in F ...... genital Central Hypothyroidism
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Three NovelIGSF1Mutations in F ...... genital Central Hypothyroidism
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921