Results 91 to 100 of about 7,639 (196)

Structural insights on perlecan and Schwartz–Jampel syndrome

Matrix Biology
Perlecan is an essential multi-domain, disulfide bond rich basement membrane protein. Mutations in perlecan cause Schwartz-Jampel syndrome and dyssegmental dysplasia. While there has been a large body of experimental work reported on perlecan, there is only minimal structural information available to date. There is no prior structural data for region 3
Anil A. Sohail, M. Kristian Koski, Lloyd W. Ruddock   +2 more
openaire   +2 more sources

#5730 PERLECAN AS A POTENTIAL BIOMARKER OF CARDIOVASCULAR RISK: ROLE OF ENDOTHELIAL GLYCOCALYX IN CHRONIC KIDNEY DISEASE [PDF]

, 2023
Gemma Valera Arévalo, Andrea Figuer Rubio, Paula Jara Caro Espada, Claudia Yuste, Enrique Morales, Noemi Ceprian Costoso, Guillermo Bodega, Rafael Ramı́rez, Matilde Alique, Julia Carracedo   +9 more
openalex   +1 more source

Perlecan and synaptophysin changes in denervated skeletal muscle.

Neural regeneration research, 2012
The present study observed sciatic nerve and gastrocnemius muscle changes in denervated rats using morphology methods, and assessed expression of perlecan, an extracellular matrix component, which is located at the skeletal muscle cell surface as acetylcholine esterase, as well as synaptophysin, a synaptic marker.
Ma, Kai, Huang, Zhifeng, Ma, Jianfeng, Shao, Longquan, Wang, Huiming, Wang, Yanliang   +5 more
openaire   +2 more sources

Genetically Confirmed Schwartz–Jampel Syndrome: An Ultra-Rare Case of Congenital Myotonia with Osteochondrodysplasia from India

International Journal of Medical Students
Background: Schwartz–Jampel syndrome is a rare autosomal recessive disorder caused by mutations in the HSPG2 gene, leading to perlecan deficiency. Perlecan is a heparan sulfate proteoglycan critical for cartilage integrity, basement membrane stability ...
Nandita Jali, Suvarna Magar, Tanya Trikha, Varsha Vaidya, Viranchi Vaidya   +4 more
doaj   +1 more source

A central function for perlecan in skeletal muscle and cardiovascular development [PDF]

, 2008
Jason J. Zoeller, Angela McQuillan, John M. Whitelock, Shiu‐Ying Ho, Renato V. Iozzo   +4 more
openalex   +1 more source

The Leucine-rich Repeat Protein PRELP Binds Perlecan and Collagens and May Function as a Basement Membrane Anchor [PDF]

, 2002
Eva Bengtsson, Matthias Mörgelin, Takako Sasaki, Rupert Timpl, Dick Heinegård, Anders Aspberg   +5 more
openalex   +1 more source

Characterization and distribution of hyaluronan and the proteoglycans decorin, biglycan and perlecan in the developing embryonic mouse gonad

, 2007
Carlos Alberto Miqueloto, Telma M.T. Zorn   +1 more
openalex   +1 more source

Perlecan [PDF]

Science-Business eXchange, 2011
openaire   +1 more source

The Fbn1 gene variant governs passive ascending aortic mechanics in the mgΔlpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency

Frontiers in Cardiovascular Medicine
IntroductionAscending thoracic aortic aneurysms arise from pathological tissue remodeling that leads to abnormal wall dilation and increases the risk of fatal dissection/rupture. Large variability in disease manifestations across family members who carry
Samar A. Tarraf, Rodrigo Barbosa de Souza, Ashley Herrick, Lygia V. Pereira, Chiara Bellini   +4 more
doaj   +1 more source

Perlecan, a Basement Membrane-type Heparan Sulfate Proteoglycan, in the Enamel Organ: Its Intraepithelial Localization in the Stellate Reticulum [PDF]

, 2005
Hiroko Ida‐Yonemochi, Kazufumi Ohshiro, Wael Swelam, Hamdy Metwaly, Takashi Saku   +4 more
openalex   +1 more source