Results 101 to 110 of about 4,891 (195)

A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome

Revista de Nefrología, Diálisis y Trasplante, 2019
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities.
Sibel Ersan, Ozgur Kirbiyik, Turker Sarikaya, Merve Saka Guvenc, Tugba Karadeniz   +4 more
doaj  

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

Nephron
Alport syndrome (AS) is a hereditary kidney disorder of type IV collagen caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Previously several cases of digenic AS, caused by two pathogenic variants in two of the three COL4A genes, have been reported.
Dipti Rao, Rutger Maas, Marlies Cornelissen, Jack Wetzels, Michel van Geel   +4 more
openaire   +2 more sources

Summary of pathogenic COL4A3/A4 mutations found in Greek-Cypriot families studied here.

, 2014
One additional deletion mutation was detected in a Cypriot of Romanian origin.Summary of pathogenic COL4A3/A4 mutations found in Greek-Cypriot families studied here.
Michael Zavros (675492), Polycarpos Polycarpou (675510), Akis Lazarou (675504), Andreas Soloukides (675507), Alexia Panagides (675495), Aristos Michael (675503), Louiza Papazachariou (389615), Avraam Elia (389620), Kyproula Demetriou (675497), Gregory Papagregoriou (333784), Konstantinos Voskarides (333789), Isavella Savva (675490), Panayiota Demosthenous (389614), Alkis Pierides (333795), Charalambos Patsias (675494), Michael Hadjigavriel (675499), Kyriakos Ioannou (675493), Costas Potamitis (675496), Ioanna Zouvani (675509), Panayiota Loukaidou (675501), Ioanna Goutziamani (675506), Myrtani Pieri (538401), Yiannis Athanasiou (333793), Lakis Yioukas (675508), Marios Prikis (675498), Maria Kkolou (675500), Constantinos Deltas (333799), Christoforos Stavrou (675491), Androulla Pastelli (675502), Maria Arsali (389616), Loukas Damianou (675505)   +30 more
core   +1 more source

Integrated Analysis Reveals COL4A3 as a Novel Diagnostic and Therapeutic Target in UV-Related Skin Cutaneous Melanoma

Clinical, Cosmetic and Investigational Dermatology
Zuochao Yao, Lu Lu, Qianhui Xu, Shan Hua, Hui Wang, Hua Jiang Department of Plastic and Reconstructive Surgery, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, 200092, People’s Republic of ChinaCorrespondence: Hui Wang; Hua Jiang,
Yao Z, Lu L, Xu Q, Hua S, Wang H, Jiang H   +5 more
doaj  

Case Report: Nephrotic syndrome as the primary manifestation of Alport syndrome in a Chinese pediatric patient

Frontiers in Pediatrics
BackgroundAlport syndrome (AS) is a genetically heterogeneous disorder resulting from variants in genes coding for the alpha-3/4/5 chains of Collagen IV, leading to defective basement membranes in the kidney, cochlea, and eye. The clinical manifestations
Yue Song, Yifei Li, Liqun Lu, Changqiang Yang, Jing Lu   +4 more
doaj   +1 more source

Frequency of variants in COL4A5, COL4A3 and COL4A4 genes in LOVD databases.

, 2016
Frequency of variants in COL4A5, COL4A3 and COL4A4 genes in LOVD databases.
Hee Gyung Kang (3120111), Mato Nagel (6470), Hae Il Cheong (191547), Eujin Park (3120096), Jens Michael Hertz (2636689), Judith Savige (3120114), Dongmao Wang (3120108), Anton Persikov (3120117), Carmen Torres-Fernandez (3120120), Roser Torra (332940), Frances Flinter (3120102), Pascale Hilbert (3120105), Lev Shagam (3120093), Mads Thomassen (395200), Helen Storey (3120099), Elisabet Ars (129410), Yanyan Wang (329749)   +16 more
core   +1 more source

COL4A3/COL4A4 Mutations Producing Focal Segmental Glomerulosclerosis and Renal Failure in Thin Basement Membrane Nephropathy

, 2007
<p>Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ~40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria and chronic renal ...
Loukas Damianou, Alkis Pierides, Christodoulidou, Stalo, Deltas, Constantinos, Alexopoulos, Efstathios, Stalo Christodoulidou, Charalampos Patsias, Valsamakis Hadjiconstantinou, Patsias, Charalampos, Konstantinos Voskarides, Yiannis Athanasiou, Athanasiou, Yiannis, Kyriacos Ioannou, Hadjiconstantinou, Valsamakis, Pierides, Alkis, Ioanna Zouvani, Damianou, Loukas, Ioannou, Kyriacos, Constantinos Deltas, Zouvani, Ioanna, Voskarides, Konstantinos, Neocleous, Vassos, Efstathios Alexopoulos, Kyriacos Kyriacou, Kyriacou, Kyriacos, Vassos Neocleous   +25 more
core   +1 more source

Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria

Renal Failure
Objective Hematuria is one of the most common conditions in children, and increase the risk of chronic kidney disease. Persistent hematuria may be the earliest manifestation of type IV collagen-related nephropathy.
Jiaojiao Liu, Dayin Zhou, Xiaowen Wang, Tong Shen, Chunyan Wang, Rufeng Dai, Xinli Han, Lin Huang, Wenli Xu, Jing Chen, Yihui Zhai, Jia Rao, Duan Ma, Qian Shen, Hong Xu   +14 more
doaj   +1 more source

Immunohistochemistry of Cyp27b1, Cyp24a1 and α-klotho in the kidneys of WT and Col4a3^−/− mice.

, 2013
Immunohistochemistry of Cyp27b1, Cyp24a1 and α-klotho in the kidneys of WT and Col4a3−/− mice.
Weikuan Gu (308468), Hua Li (46469), Yan Jiao (308467), L. Darryl Quarles (308469), Valentin David (306497), Aline Martin (308465), Bing Dai (171560), Jinsong Huang (308466)   +7 more
core   +1 more source

RETRACTED ARTICLE: Liposome-lentivirus for miRNA therapy with molecular mechanism study

Journal of Nanobiotechnology
Background Cancer stem cells (CSCs) play a vital role in the occurrence, maintenance, and recurrence of solid tumors. Although, miR-145-5p can inhibit CSCs survival, poor understanding of the underlying mechanisms hamperes further therapeutic ...
Fen Sun, Huaqing Chen, Xiaoyong Dai, Yibo Hou, Jing Li, Yinghe Zhang, Laiqiang Huang, Bing Guo, Dongye Yang   +8 more
doaj   +1 more source