Results 41 to 50 of about 5,131 (208)

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

Animal Models and Experimental Medicine, EarlyView.
Based on a dermis fibroblast Gorab knockout mouse model, this study revealed that Gorab deficiency promotes skin aging by influencing RCHY1, causing a decrease in P53 ubiquitination, damaging the activity of HDAC2, further resulting in the accumulation of aging‐related proteins (P53, P21, P16) and a reduction in extracellular matrix (ECM) components ...
Yanhong Li, Wei Liang, Yanfeng Xu, Yunlin Han, Wenjie Zhao, Siyuan Wang, Wei Deng, Chuan Qin   +7 more
wiley   +1 more source

Cútis laxa: relato de caso Cutis laxa: case report

Anais Brasileiros de Dermatologia, 2010
A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico.
Gisele Moro do Nascimento, Caroline Sampaio Alves Nunes, Paula Fatuch Menegotto, Salmo Raskin, Nádia de Almeida   +4 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Cútis laxa granulomatosa: relato de caso Granulomatous slack skin: a case report

Anais Brasileiros de Dermatologia, 2007
A cútis laxa granulomatosa é variante de linfoma T cutâneo com características histopatológicas semelhantes às da micose fungóide, além da presença de infiltrado granulomatoso e perda de fibras elásticas.
Maria do Rosário Ferraz Roberti, Cristiane Araújo Tuma   +1 more
doaj   +1 more source

Integrin‐Binding Matricellular Protein Fibulin‐5 Maintains Epidermal Stem Cell Heterogeneity During Skin Aging

Aging Cell, Volume 25, Issue 4, April 2026.
Fibulin‐5 maintains epidermal stem cell heterogeneity during skin aging by linking the extracellular environment to YAP‐dependent intracellular signaling. Its loss reduces YAP activity and depletes the fast‐cycling epidermal stem cell population, recapitulating age‐associated changes in skin.
Wenxin Fan, Mizuho Ishikawa, Erna Raja, Ahmed M. Hegazy, Hinata Date, Yen Xuan Ngo, Yoshifumi Sato, Kazuya Yamagata, Hiromi Yanagisawa, Aiko Sada   +9 more
wiley   +1 more source

Cútis Laxa Adquirida: Relato de Caso/ Acquired Cutis Laxa: Case Reported

Revista Ciências em Saúde, 2011
Introdução: A Cútis Laxa é uma doença que resulta na alteração do tecido elástico, tornando a pele frouxa. A forma adquirida é mais rara e tem etiopatogenia desconhecida.
Karla Di Latella Boufleur, Ligia Junqueira Ragazzini, Kátia Mussolini Gama Gazze   +2 more
doaj   +1 more source

Long‐Term Follow‐Up of Patients With Transaldolase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Transaldolase (TALDO) deficiency has a well‐characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients.
M. Scaglione, A. Brassier, A. Wiedemann, I. Jankowska, J. Pawłowska, T. Lamireau, L. Bridoux‐Henno, C. Douillard, T. Casswall, U. Cucinotta, M. Gaschignard, P. Socha, F. Feillet, B. Fischler, D. Samara‐Boustani, M. C. Schiaffino, M. Schiff, P. De Lonlay, F. Lacaille   +18 more
wiley   +1 more source

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities [PDF]

, 2018
Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of ...
Baumer, Alessandra, Baumgartner, Matthias, Bozorgmehr, Bita, Giunta, Cecilia, Hausser, Ingrid, Häberle, Johannes, Kariminejad, Ariana, Kariminejad, Mohamad, Kretz, Rita, Rohrbach, Marianne   +9 more
core  

Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis

International Journal of Dermatology, Volume 65, Issue 3, Page 464-488, March 2026.
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla, Zseraldin Metyovinyi, Fanni Adél Meznerics, Arash Mirzahosseini, Judit Tőke, Miklós Tóth, Henriett Butz, Attila Patócs, Márta Medvecz   +8 more
wiley   +1 more source

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma [PDF]

Anais Brasileiros de Dermatologia, 2013
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain ...
Fernanda Guedes Lavorato, Maria de Fátima Guimarães Scotelaro Alves, Juan Manuel Piñeiro Maceira, Natasha Unterstell, Laura Araújo Serpa, Luna Azulay-Abulafia   +5 more
doaj   +1 more source