Results 71 to 80 of about 3,450 (166)

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype

Kidney International Reports
Introduction: Pathogenic variants in COL4A3–5 are common causes of inherited kidney disease. The clinical presentation extends from classical Alport syndrome (AS) to focal segmental glomerulosclerosis (FSGS) without extrarenal manifestation.
Bastian M. Krüger, Annika Jens, Anna Neuhaus, Jasmina Ćomić, Riccardo Berutti, Jonathan de Fallois, Friederike Petzold, Johannes Münch, Jan Kowald, Tom H. Lindner, Klemens Budde, Klara K. Brüning, Julia Thumfart, Jacob Haas, Carolin B. Brigl, Kerstin Amann, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajić, Evelyn Seelow, Charlotte Hammett, Kai-Uwe Eckardt, Korbinian M. Riedhammer, Eva V. Schrezenmeier, Julia Hoefele, Jan Halbritter   +27 more
doaj   +1 more source

A Conformal Wearable Ultrasound Bioelectronics for Mechanotherapy Reprogramming of Fibroblast Plasticity via Wnt‐FGF10 Axis to Overcome Fibrotic Healing in Urethral Regeneration

Advanced Science, Volume 13, Issue 24, 27 April 2026.
Fibrotic scarring persistently challenges urethral reconstruction. This study introduces a conformal, wearable ultrasound bioelectronic system that overcomes this by reprogramming fibroblast fate. The device activates a developmental Wnt–FGF10 axis, driving fibroblasts toward a regenerative FGF10+ phenotype that promotes angiogenesis and matrix ...
Mingming Yu, Xingxuan Zhang, Huan Zhang, Jun Wang, Fang Chen, Xiaojun Cai, Yichen Huang, Yuanyi Zheng   +7 more
wiley   +1 more source

A Novel Topical Emollient Plus for Canine Atopic Dermatitis: A Clinical Trial Assessing Efficacy and User Acceptance

Veterinary Dermatology, Volume 37, Issue 2, Page 293-305, April 2026.
Background: Canine atopic dermatitis (cAD) is a common, chronic skin condition characterised by epidermal barrier dysfunction, immune dysregulation and cutaneous dysbiosis. While “emollient plus” formulations are widely used in human atopic dermatitis, their role in cAD remains underexplored. Hypothesis/Objectives: To evaluate the clinical efficacy and
Beatriz Fernandes, António Caldeira Mendes, Susana Paula Alves, Vanessa Schmidt, Ana Filipa Bizarro, Marta Pinto, Hugo Pereira, Joana Marto, Ana Mafalda Lourenço   +8 more
wiley   +1 more source

Efficacy of Der f 2/Zen 1‐LAMP1 Plasmid‐Based Vaccine Immunotherapy in Dogs With Atopic Dermatitis: A Proof‐of‐Concept Study

Veterinary Dermatology, Volume 37, Issue 2, Page 306-318, April 2026.
Background: DNA‐based vaccination rapidly induces strong cellular and humoral immune responses, which may be enhanced by inclusion of lysosomal‐associated membrane protein‐1 (LAMP). Objectives: This proof‐of‐concept study evaluated the efficacy and safety of a Der f 2/Zen 1‐LAMP‐based DNA vaccine immunotherapy in client‐owned dogs with nonseasonal AD ...
Petra Bizikova, Chigusa Matsumoto, Shoji Ogino, Toshihiro Tsukui, Kim Love, Marcy Murphy, Ina Herrmann   +6 more
wiley   +1 more source

Generation of an urine-derived induced pluripotent stem cell line from a 5-year old X-linked Alport syndrome (X-LAS) patient

Stem Cell Research, 2020
The gene mutations of the collagen type IV alpha 5 chain (COL4A5) can lead to the inherited haematuria to end-stage renal disease X-linked Alport syndrome (X-LAS).
Xiaoling Guo, Weiping Ji, Chao Niu, Yinjuan Ding, Zhanguo Chen, Congde Chen, Hongfei Tong, Zhao Han, Maoping Chu   +8 more
doaj   +1 more source

Gut–Metabolome–Proteome Interactions in Age‐Related Hearing Loss: Insights from Fecal Microbiota Transplantation and Multi‐Omics Analyses

Advanced Science, Volume 13, Issue 18, 27 March 2026.
Germ‐free (GF) mice receiving fecal microbiota transplantation (FMT) reveal microbiota‐dependent effects on auditory aging. Integrated metagenomic, metabolomic and proteomic profiling maps gut–inner ear network and highlights 5‐hydroxytryptophan (5‐HTP) as a microbiota‐linked metabolic hub in age‐related hearing loss (ARHL).
Ting Yang, Ziwen Gao, Hui Huang, Chanyuan Zhang, Yiquan Tang, Qianhui Qu, Huabin Li, Jing Ke, Zhiji Chen, Menglong Feng, Hu Zhou, Yilai Shu, Wei Yuan   +12 more
wiley   +1 more source

A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene

Scientific Reports
Alport syndrome is a hereditary kidney disease with significant variations in onset and prognosis. While 80–85% of cases are due to pathogenic variants in the COL4A5 gene, there is a notable lack of mouse models with Col4a5 mutations for basic research ...
Zhitao Ye, Di Lu, Shumin Zhou, Guanyu Li, Lili Long, Jiayi Zhang, Ming Liu, Xia Gao   +7 more
doaj   +1 more source

A novel mutation in the COL4A5 gene in the Yakut family with Alport syndrome

Якутский медицинский журнал
Alport syndrome is a hereditary progressive kidney disease associated with sensorineural hearing loss and vision abnormalities, which is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes encoding the α3, α4, and α5 type IV collagen chains. This
A. M. Cherdonova, N. A. Barashkov, F. M. Teryutin, V. G. Pshennikova, T. V. Borisova, A. A. Nikanorova, A. V. Solovyov, G. P. Romanov, S. A. Fedorova   +8 more
doaj   +1 more source

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series

International Journal of Nephrology and Renovascular Disease
Yang Li,1 Xue Yan,2 Zhen Luo,1 Xianxian Fu,1 Zhongju Li,1 Qiuzhu Xu,3 Juanjuan Chen,1 Jingmin Yang,2,4,5 Daru Lu4,5 1Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republic of ...
Li Y, Yan X, Luo Z, Fu X, Li Z, Xu Q, Chen J, Yang J, Lu D   +8 more
doaj  

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