Results 61 to 70 of about 2,525,206 (182)

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source

Table_1_Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.XLSX

, 2021
Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5′ exons of COL4A5 and COL4A6.
Xi Zhou (452148), Jingjing Wang (140791), Qing Ye (90197), Jianhua Mao (447450)   +3 more
core   +1 more source

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

, 1994
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport ...
MASCHIO, Giuseppe, S. Li Volti, A. Renieri, M. De Marchi, L. Galli, F. Mollica, P. Pignatti, De Marchi, Mario, B. Peissel, S. Rossetti, LUPO, Antonio   +10 more
core   +1 more source

Proteolysis at the extracellular matrix interface: Molecular architects and regulators in health and disease

The FEBS Journal, Volume 293, Issue 13, Page 3758-3787, July 2026.
The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka, Matija Hrovatin, Bor Bokalj, Boris Turk   +3 more
wiley   +1 more source

Data_Sheet_2_Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.PDF

, 2021
Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5′ exons of COL4A5 and COL4A6.
Xi Zhou (452148), Jingjing Wang (140791), Qing Ye (90197), Jianhua Mao (447450)   +3 more
core   +1 more source

Familial hematuria: A review

Medicina, 2017
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations.
Pavlína Plevová, Josef Gut, Jan Janda
doaj   +1 more source

iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome

Communications Biology, 2023
Alport syndrome (AS) is a hereditary glomerulonephritis caused by COL4A3, COL4A4 or COL4A5 gene mutations and characterized by abnormalities of glomerular basement membranes (GBMs).
Ryuichiro Hirayama, Kosuke Toyohara, Kei Watanabe, Takeya Otsuki, Toshikazu Araoka, Shin-Ichi Mae, Tomoko Horinouchi, Tomohiko Yamamura, Keisuke Okita, Akitsu Hotta, Kazumoto Iijima, Kandai Nozu, Kenji Osafune   +12 more
doaj   +1 more source

Sensing and Communicating β‐Cell Stress in the Context of T1D Etiology: New Opportunities for Therapeutic Impact

Comprehensive Physiology, Volume 16, Issue 3, June 2026.
Type 1 diabetes (T1D) results from the immune‐mediated destruction of insulin‐producing pancreatic β‐cells. Recent human studies show that early β‐cell stress maladaptations precede overt immune cell infiltration. DOC2B, a vesicle secretion regulatory protein that supports β‐cell functionality and resilience against stress, declines early in T1D ...
Diana Esparza, Chathurani S. Jayasena, Tijana Jovanovic‐Talisman, Debbie C. Thurmond   +3 more
wiley   +1 more source

Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease

Journal of Diabetes Investigation, Volume 17, Issue 6, Page 1000-1003, June 2026.
We examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. A total of 2177 patients with type 2 diabetes were examined. The prevalences of diagnostic variant of Mendelian kidney disease were 8.6% (DKD +) vs 7.8%, and there ...
Yosuke Hirakawa, Yuka Sugawara, Masaomi Nangaku   +2 more
wiley   +1 more source

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia [PDF]

, 2004
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.BackgroundThe prevalence of X-linked Alport syndrome, a progressive inherited nephropathy associated with mutations in the ...
Gubler, Marie-Claire, Le Meur, Yannick, Cordonnier, Christophe, Viau, Amandine, Deschênes, Georges, Amadeo, Stephane, Antignac, Corinne, Arrondel, Christelle, Heidet, Laurence, Fournier, Alain   +9 more
core   +1 more source