Results 91 to 100 of about 23,214 (166)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Saudi Journal of Kidney Diseases and Transplantation, 2006
Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport′s syndrome is often associated with sensorineural deafness
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Hmida M, Gubler M, Ayadi H, Hachicha J   +10 more
doaj  

miR‐135a‐5p Is a Promising Target to Prevent the Glomerulosclerosis Associated with Podocyte Developmental Toxicity in Offspring Induced by Prenatal Dexamethasone Exposure

Advanced Science, Volume 13, Issue 20, 9 April 2026.
Prenatal dexamethasone exposure (PDE) programs persistent podocyte developmental injury and adult glomerulosclerosis. Mechanistically, glucocorticoid receptor (GR) binds the miR‐135a‐5p promoter and recruits the histone acetyltransferase p300, increasing promoter histone acetylation and sustaining miR‐135a‐5p expression. Elevated miR‐135a‐5p suppresses
Xiaoqi Zhao, Haiyun Chen, Yanan Zhu, Zhiping Xia, Hangyuan He, Yutang Liu, Tianshu Yang, Hui Wang, Ying Ao   +8 more
wiley   +1 more source

A novel deep learning approach for analyzing glomerular basement membrane lesions in a mouse model of X-linked Alport syndrome.

American Journal of Pathology
Alport syndrome is a rare kidney disease typically more severe in males due to its X-linked inheritance. However, female patients with heterozygous X-linked Alport syndrome (XLAS) can develop renal failure over time, necessitating accurate pathological ...
Kunio Kawanishi, Masaki Baba, Ryosuke Kobayashi, Ryotaro Hori, Kentaro Hashikami, Kenta Danbayashi, Takako Iwachido, Mitsuyasu Kato   +7 more
semanticscholar   +1 more source

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation

Biochemistry and Biophysics Reports, 2018
Alport syndrome (AS) is an inherited disorder characterized by glomerular basement membrane (GBM) abnormality and development of chronic kidney disease at an early age.
Kentaro Hashikami, Makoto Asahina, K. Nozu, K. Iijima, Michio Nagata, Michiyasu Takeyama   +5 more
semanticscholar   +1 more source

WNK1 Kinase Activity Is Required for the Functional Maintenance of Podocyte Structure

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
The acute effects of WNK1 kinase inhibition on podocyte structure and function were determined at the level of: 1) renal function, by measurements of urinary protein and imaging of glomerular synaptopodin, 2) podocyte cell, by measurements and localization of actomyosin proteins and their regulators, and 3) focal adhesions at cell membrane extensions ...
Zhenan Liu, Eunyoung Lee, Shumeng Jiang, Joonho Yoon, Fouzia Ahmed, Mohammad A. Rahman, Philip Bleicher, Hani Y. Suleiman, Leslie A. Bruggeman, R. Tyler Miller, Audrey N. Chang   +10 more
wiley   +1 more source

Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes

Kidney Medicine
Rationale & Objective: Alport syndrome is an inherited kidney disease with significant clinical heterogeneity. This study aims to explore risk factors affecting the prognosis and investigates the relationship between kidney cysts and clinical ...
Zhuo-ran Song, Yang Li, Zhi-ying Liu, Meng-shi Li, Yu-qing Chen, Ji-cheng Lv, Xu-jie Zhou, Hong Zhang   +7 more
doaj   +1 more source

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Background Hereditary myopathy with early respiratory failure (HMERF) is a rare autosomal dominant disorder caused by TTN variants. COL4A5 mutations are linked to X‐linked Alport syndrome. Case Presentation A 34‐year‐old male developed progressive lower limb weakness, gait disturbance, nocturnal hypoventilation, and calf hypertrophy.
Ursula Abu Nahla, Rahaf Bleibel, Mai Arafeh, Saif Khaled Abdalhadi Azzam, Lina Barhoum, Mostafa Ibraheem, Motaz Altamimi, Bashar Sultan, Orwa Al Fallah, Balraj Mittal   +9 more
wiley   +1 more source

Alport Syndrome–Associated Pathogenic COL4A4 Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis

International Journal of Genomics, Volume 2026, Issue 1, 2026.
Background Pathogenic variants in the COL4A4 gene lead to Alport syndrome, a hereditary kidney disorder characterized by deficiencies in the glomerular basement membrane (GBM), progressive renal failure, and associated visual and auditory dysfunctions.
Bakhtawar Farooq, Zahid Habib Qureshi, Muhammad Tahir Khan, Muhammad Faisal, Madeeha Shahzad Lodhi, Annamaria Sapuppo   +5 more
wiley   +1 more source

#2327 Extent of proteinuria in autosomal dominant Alport syndrome compared to X linked Alport syndrome

Nephrology Dialysis Transplantation
Abstract Background and Aims Alport syndrome (AS), as first described by Arthur Cecil Alport in late XIX century, encompasses a clinical picture of neurosensorial hypoacusia, ocular abnormalities, hematuria and proteinuric kidney disease progressing to end-stage kidney disease in the young adulthood ...
Pedro Lisboa Gonçalves, Vitoria Paes de Faria, Monica Furlano, Catarina Almeida, Erasmia Sampani, Melissa Pilco Teran, Elisabet Viera, Leonor Fayos, Marc Pybus, Miriam Aza, Elisabet Ars, Roser Torra   +11 more
openaire   +1 more source