Results 61 to 70 of about 3,403 (162)

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing

Scientific Reports, 2021
Mutations in COL4A3, COL4A4 and COL4A5 genes lead to Alport syndrome (AS). However, pathogenic variants in some AS patients are not detected by exome sequencing.
Xiaoyuan Wang, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +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

Assessing D‐Squame as a Minimally Invasive Technique to Evaluate the Cutaneous Immune Response mRNA in a Dog Model of Canine Atopic Dermatitis

Veterinary Dermatology, Volume 37, Issue 3, Page 353-364, June 2026.
ABSTRACT Background Canine atopic dermatitis (cAD) is a multifactorial, inherited skin disease, estimated to affect ≤ 15% of dogs. Studies of skin messenger mRNA in cAD currently use invasive methods, including blood sampling and biopsy collection, whilst advances in human atopic dermatitis study methodology have demonstrated reliable use of minimally ...
Xavier Langon, Marion Mosca, Nadège Milhau, Mélanie Legain, Adrien Idée, Didier Pin   +5 more
wiley   +1 more source

Characteristics of COL4A5, COL4A3 and COL4A4 genes and the corresponding proteins.

, 2016
Characteristics of COL4A5, COL4A3 and COL4A4 genes and the corresponding proteins.
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

Evaluation of possible relationship between COL4A4 gene polymorphisms and risk of keratoconus

, 2015
Purpose: Keratoconus (KC) is a genetically heterogeneous corneal dystrophy with unknown etiology that causes loss of visual acuity. Evidence has shown that corneas from patients with KC contain reduced amounts of total collagen proteins, and collagen ...
Bahari, G., Yari, D., Validad, M.-H., Khateri, M., Saravani, R., Bahadoram, S., Hasanian-Langroudi, F., Faramarzi, M.   +7 more
core  

Tolerability and Feasibility of Minimally Invasive Canine Skin Sampling: Excellent Tolerability Meets Transcriptomic Challenges

Veterinary Dermatology, Volume 37, Issue 3, Page 375-385, June 2026.
ABSTRACT Background Advances in transcriptomics have driven the demand for minimally invasive, reproducible and high‐yield skin sampling methods, particularly for studying inflammatory skin diseases in companion animals. Hypothesis/Objectives We tested tolerability, feasibility and RNA quantity and quality of three minimally invasive skin sampling ...
Ina Herrmann, Lisa B. Mamo, Allison N. Dickey   +2 more
wiley   +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

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS)

Frontiers in Genetics, 2019
Alport syndrome (AS) is a rare and inherited renal disorder with an autosomal recessive mode of inheritance. AS patients usually manifest with hematuria and progressive renal disorder also occasionally accompanied by hearing loss and ophthalmic disease ...
Feng Zhu, Wencheng Li, Zhenqiong Li, Hongyan Zhu, Jing Xiong   +4 more
doaj   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +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