Simpson-Golabi-Behmel Syndrome Latest Advances

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

Journal: Journal of human genetics

Published: February 14, 2026

Active whitening of human SGBS adipocytes is associated with coordinated AMPK-HIF-autophagy signalling and mitochondrial remodelling.

Journal: Tissue & cell

Published: February 03, 2026

Calpain inhibition by calpeptin modulates adipocyte lipid metabolism and secretome-mediated inflammatory crosstalk with hepatocytes.

Journal: Inflammation research : official journal of the European Histamine Research Society ... [et al.]

Published: January 02, 2026

Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous GPC3 stopgain variant mimicking acromegaly.

Journal: JCEM case reports

Published: December 01, 2025

Palmitic acid differently modulates extracellular vesicles and cellular fatty acid composition of SGBS adipocytes without impairing their insulin signaling.

Journal: Frontiers in endocrinology

Published: September 05, 2025

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

Journal: Environment international

Published: August 24, 2025

MiR-874-3p suppresses TNF-α-induced inflammation in adipocytes by targeting nucleolin.

Journal: Journal of molecular histology

Published: August 21, 2025

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Journal: American journal of medical genetics. Part A

Published: July 17, 2025

Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3.

Journal: American journal of medical genetics. Part A

Published: July 01, 2025

Capsaicin camphor and caffeic acid reduce adipogenesis and promote lipolysis with TRPV1 involvement.

Journal: Scientific reports

Published: June 23, 2025

Unraveling Glypican-3: From Structural to Pathophysiological Roles and Mechanisms-An Integrative Perspective.

Journal: Cells

Published: April 10, 2025

Radioactive Tracing of Testosterone Reveals Minimal Formation of 5α-DHT in SGBS Cells and Human Primary Adipocytes.

Journal: Journal of the Endocrine Society

Published: March 31, 2025

Simpson-Golabi-Behmel Syndrome Latest Advances

Find the Latest Research About Simpson-Golabi-Behmel Syndrome

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

Active whitening of human SGBS adipocytes is associated with coordinated AMPK-HIF-autophagy signalling and mitochondrial remodelling.

Active whitening of human SGBS adipocytes is associated with coordinated AMPK-HIF-autophagy signalling and mitochondrial remodelling.

Calpain inhibition by calpeptin modulates adipocyte lipid metabolism and secretome-mediated inflammatory crosstalk with hepatocytes.

Calpain inhibition by calpeptin modulates adipocyte lipid metabolism and secretome-mediated inflammatory crosstalk with hepatocytes.

Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous GPC3 stopgain variant mimicking acromegaly.

Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous GPC3 stopgain variant mimicking acromegaly.

Palmitic acid differently modulates extracellular vesicles and cellular fatty acid composition of SGBS adipocytes without impairing their insulin signaling.

Palmitic acid differently modulates extracellular vesicles and cellular fatty acid composition of SGBS adipocytes without impairing their insulin signaling.

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

MiR-874-3p suppresses TNF-α-induced inflammation in adipocytes by targeting nucleolin.

MiR-874-3p suppresses TNF-α-induced inflammation in adipocytes by targeting nucleolin.

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3.

Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3.

Capsaicin camphor and caffeic acid reduce adipogenesis and promote lipolysis with TRPV1 involvement.

Capsaicin camphor and caffeic acid reduce adipogenesis and promote lipolysis with TRPV1 involvement.

Unraveling Glypican-3: From Structural to Pathophysiological Roles and Mechanisms-An Integrative Perspective.

Unraveling Glypican-3: From Structural to Pathophysiological Roles and Mechanisms-An Integrative Perspective.

Radioactive Tracing of Testosterone Reveals Minimal Formation of 5α-DHT in SGBS Cells and Human Primary Adipocytes.

Radioactive Tracing of Testosterone Reveals Minimal Formation of 5α-DHT in SGBS Cells and Human Primary Adipocytes.