Wrinkly Skin Syndrome Latest Advances

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Journal: Cellular and molecular life sciences : CMLS

Published: January 02, 2024

Oral Intake of Hydrangea serrata (Thunb.) Ser. Leaves Extract Improves Wrinkles, Hydration, Elasticity, Texture, and Roughness in Human Skin: A Randomized, Double-Blind, Placebo-Controlled Study.

Journal: Nutrients

Published: April 14, 2020

Cutis laxa autosomal recessive type II or wrinkly skin syndrome?

Journal: Indian dermatology online journal

Published: October 13, 2016

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Journal: Indian journal of dermatology

Published: November 06, 2015

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Journal: American journal of human genetics

Published: May 22, 2015

Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.

Journal: Electronic physician

Published: September 15, 2014

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Journal: Molecular genetics and metabolism

Published: June 16, 2013

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Journal: American journal of medical genetics. Part A

Published: May 31, 2013

Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome

Journal: Klinische Padiatrie

Published: July 24, 2012

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Journal: Human genetics

Published: June 20, 2012

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Journal: American journal of medical genetics. Part A

Published: January 02, 2011

Cellular physiology of the renal H+ATPase.

Journal: Current opinion in nephrology and hypertension

Published: June 30, 2009

Filters

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Oral Intake of Hydrangea serrata (Thunb.) Ser. Leaves Extract Improves Wrinkles, Hydration, Elasticity, Texture, and Roughness in Human Skin: A Randomized, Double-Blind, Placebo-Controlled Study.

Oral Intake of Hydrangea serrata (Thunb.) Ser. Leaves Extract Improves Wrinkles, Hydration, Elasticity, Texture, and Roughness in Human Skin: A Randomized, Double-Blind, Placebo-Controlled Study.

Cutis laxa autosomal recessive type II or wrinkly skin syndrome?

Cutis laxa autosomal recessive type II or wrinkly skin syndrome?

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.

Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome

Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Cellular physiology of the renal H+ATPase.

Cellular physiology of the renal H+ATPase.