Gerodermia Osteodysplastica Latest Advances

Find the Latest Research About Gerodermia Osteodysplastica

Last Updated: 04/28/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 36 publications

Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1-mediated P53 ubiquitination.

Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1-mediated P53 ubiquitination.

Journal: Animal models and experimental medicine

Published: October 27, 2025

Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management.

Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management.

Journal: Clinical genetics

Published: October 16, 2025

Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.

Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.

Journal: Case reports in genetics

Published: June 29, 2024

Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica.

Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica.

Journal: Aging cell

Published: January 18, 2024

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Journal: Genes

Published: June 25, 2019

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.

Journal: Nature communications

Published: April 16, 2018

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Journal: Ultrastructural pathology

Published: February 10, 2018

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Journal: European journal of medical genetics

Published: May 15, 2017

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

Journal: PLoS genetics

Published: March 08, 2017

Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging.

Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging.

Journal: Journal of biomechanics

Published: March 08, 2017

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

Journal: Journal of inherited metabolic disease

Published: January 10, 2017

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Journal: International journal of molecular sciences

Published: December 09, 2016

Showing 1-12 of 36

Last Updated: 04/28/2026