Results 91 to 100 of about 6,036 (217)

Congenital cutis laxa syndrome: type II autosomal recessive inheritance

The Turkish Journal of Pediatrics, 2003
Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types.
Beyhan Tüysüz, Müjde Arapoğlu, Barbaros Ilikkan, Cuyan Demirkesen, Yildiz Perk   +4 more
doaj  

Incomplete cleft palate in a child with De Barsy syndrome

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2018
De Barsy syndrome, a rare genetic disorder, is characterized by progeroid features, cutis laxa, ocular abnormalities, growth retardation, and intellectual disability.
Devi Prasad Mohapatra, Sireesha Reddy Konda, Preethitha Babu   +2 more
doaj   +1 more source

Extra-renal locations of the a4 subunit of H+ATPase [PDF]

, 2016
Background Vacuolar-type proton pumps help maintain acid–base homeostasis either within intracellular compartments or at specialised plasma membranes. In mammals they are made up of 13 subunits, which form two functional domains. A number
Golder, Zoe J, Karet Frankl, Fiona E
core   +2 more sources

D-penicillamine induced degenerative dermopathy

Indian Journal of Dermatology, 2015
D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson′s disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy
Sujay Khandpur, Naresh Jain, Shweta Singla, Priti Chatterjee, Madhuri Behari   +4 more
doaj   +1 more source

The Dermatan Sulfate Proteoglycan Decorin Modulates α2β1 Integrin and the Vimentin Intermediate Filament System during Collagen Synthesis. [PDF]

, 2012
Decorin, a small leucine-rich proteoglycan harboring a dermatan sulfate chain at its N-terminus, is involved in regulating matrix organization and cell signaling. Loss of the dermatan sulfate of decorin leads to an Ehlers-Danlos syndrome characterized by
Eckes, Beate, Iozzo, Renato V, Jungmann, Oliver, Nikolovska, Katerina, Owens, Rick T, Riethmüller, Christoph, Schulz, Jan-Niklas, Seidler, Daniela G, Stock, Christian   +8 more
core   +4 more sources

CUTIS LAXA GRANULOMATOSA: RELATO DE CASO DE UM SUBTIPO RARO DE LINFOMA T CUTÂNEO/MICOSE FUNGÓIDE

, 2023
NVN Carvalho, GAB Bretas, RLR Baptista, CLF Oliveira, FPP Sacre, VHG Natal, CMB Júnior, José Barbosa dos Santos, LS Gonçalves, MD Costa   +9 more
openalex   +1 more source

Washington University Record, April 28, 2006 [PDF]

, 2006
https://digitalcommons.wustl.edu/record/2071/thumbnail ...

core   +1 more source

Peningkatan Ketebalan Serat Elastin Dinding Vagina Pada Prolapsus Organ Pelvis Anterior [PDF]

, 2016
Tujuan: Mengukur ketebalan serat elastin pada dinding vagina penderita POP anterior dan menganalisis korelasi antara ketebalan serat elastin dengan derajat POP anterior.Bahan dan Metode: Penelitian ini merupakan penelitian analitik observasional secara ...
K, E. M. (Eighty), Mustokoweni, S. (Sjahjenny), Zaki, A. (Achmad)   +2 more
core   +2 more sources

Acquired cutis laxa from heavy chain deposition disease

, 2022
Valentine Gillion, Marie‐Christiane Vekemans, Alexia Rinsant, Selda Aydın, Caroline Colmant, Frank Bridoux, Éric Goffin   +6 more
openalex   +2 more sources

Elastólise pós-inflamatória e cutis laxa (doença de James Marshall): estudo de casos Post-inflammatory elastolysis and cutis laxa (James Marshall disease): case study

Anais Brasileiros de Dermatologia, 2007
FUNDAMENTOS: Elastólise pós-inflamatória e cutis laxa são doenças raras, porém só o Estado de Minas Gerais responde por quase um terço dos casos relatados em todo o mundo. Também são escassos os trabalhos com seguimento dos pacientes.
Claudemir Roberto Aguilar, Bernardo Gontijo, Everton Carlos Siviero do Vale   +2 more
doaj   +1 more source