Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.
about
The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoproteinThe syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.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.
P2860
Q33884217-519B5E30-59C9-4E75-930C-C6DE24A9BA87Q37681876-B6293A73-7AA0-42FB-B1F1-5A7D96F814F8Q38797075-03A302A0-E19F-4CF0-9315-EB25AE67517CQ39332895-B39C35B4-A2B2-415C-BD7A-177442C225BCQ48253553-045D7D2E-98E6-4BF7-8D85-48B51B4FA415Q52584514-795990D5-1FBF-44D3-83A2-FF815710E1DFQ52624050-116D005D-43B8-41B5-9EF7-94B270456C03
P2860
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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2016年學術文章
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name
Identification of an IGSF1-spe ...... oidism without macroorchidism.
@en
Identification of an IGSF1-spe ...... oidism without macroorchidism.
@nl
type
label
Identification of an IGSF1-spe ...... oidism without macroorchidism.
@en
Identification of an IGSF1-spe ...... oidism without macroorchidism.
@nl
prefLabel
Identification of an IGSF1-spe ...... oidism without macroorchidism.
@en
Identification of an IGSF1-spe ...... oidism without macroorchidism.
@nl
P2093
P2860
P356
P1476
Identification of an IGSF1-spe ...... oidism without macroorchidism.
@en
P2093
Alison Gardner
James N Hughes
Jessica Heatlie
Joseph Belsky
Paul Q Thomas
Thomas Morgan
P2860
P304
P356
10.1111/CEN.13094
P577
2016-06-09T00:00:00Z