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

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

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

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

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

The Diversity of Mechanisms Influenced by Transthyretin in Neurobiology: Development, Disease and Endocrine Disruption

(2015) B. Alshehri et al.   JOURNAL OF NEUROENDOCRINOLOGY

IGSF1 variants in boys with familial delayed puberty

(2014) Sjoerd D. Joustra et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Bone Morphogenetic Protein 2 Signals via BMPR1A to Regulate Murine Follicle-Stimulating Hormone Beta Subunit Transcription1

(2009) Catherine C. Ho et al.   BIOLOGY OF REPRODUCTION

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

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