The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals

UniProt: the universal protein knowledgebase in 2021

(2020) et al.   NUCLEIC ACIDS RESEARCH

IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction

(2019) Sjoerd D Joustra et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation

(2018) Takeshi Yamaguchi et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice

(2017) Marc-Olivier Turgeon et al.   ENDOCRINOLOGY

Central hypothyroidism — a neglected thyroid disorder

(2017) Paolo Beck-Peccoz et al.   Nature Reviews Endocrinology

The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein

(2017) Ying Wang et al.   PLoS One

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

(2017) Marta García et al.   Scientific Reports

Identification of anIGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism

(2016) James N. Hughes et al.   CLINICAL ENDOCRINOLOGY

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

(2016) S. D. Joustra et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation

(2016) Satsuki Nishigaki et al.   THYROID

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation

(2016) Yardena Tenenbaum-Rakover et al.   THYROID

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

(2016) Severine Van Hulle et al.   Journal of Clinical Research in Pediatric Endocrinology

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1

(2015) Yumi Asakura et al.   Hormone Research in Paediatrics

Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat

(2015) Sjoerd D Joustra et al.   JOURNAL OF ENDOCRINOLOGY

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

(2013) S. D. Joustra et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2013) Akie Nakamura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

(2012) Yu Sun et al.   NATURE GENETICS

G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination

(2011) R. Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Internal Signal Sequence Directs Intramembrane Proteolysis of a Cellular Immunoglobulin Domain Protein

(2008) Thalia Robakis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY