Results 31 to 40 of about 2,309 (169)
Electronic Physician, 2015 Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked.
Mohammadbagher Rahmati +3 more
doaj +1 more source
Drunk, crazy, animal: you derive from life and body in Manuel T. Podestá's Irresponsible [PDF]
, 2018 Dentro de los procesos históricos y culturales que experimenta la Argentina de finales del siglo XIX, es posible detectar una significativa transformación en torno a los modos de pensar, estudiar y representar el cuerpo humano en su faceta biológica ...
Simari, Leandro Ezequiel
core +1 more source
BMC Medical Genomics, 2020 Background Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13.
Qiang Zhang +5 more
doaj +1 more source
Sweet's syndrome leading to acquired cutis laxa in a child (Marshall's syndrome): A rare case report
Indian Journal of Paediatric Dermatology, 2016 Sweet's syndrome is very rare in children, fewer than 80 cases are reported in literature. The lesions usually resolve either spontaneously or after treatment without scarring.
H Bangaru +3 more
doaj +1 more source
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 +7 more
wiley +1 more source
The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]
, 2015 Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças ...
Afonso, P +3 more
core
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 +7 more
wiley +1 more source
Alimentação, saúde e império : o físico-mor Luís Vicente de Simoni e a nutrição dos moçambicanos [PDF]
, 2005 Em 1819, o médico genovês Luís Vicente de Simoni chegou a Moçambique como físico-mor da capitania, cargo que exerceu no Real Hospital Militar da ilha durante quase um biénio, desde 15 de Setembro desse ano até 10 de Julho de 1821. Construído no final do
Rodrigues, Eugénia
core
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 +9 more
wiley +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 +18 more
wiley +1 more source