Results 51 to 60 of about 6,803 (205)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment. [PDF]

PLoS ONE, 2015
Alport syndrome is a genetic disease of collagen IV (α3, 4, 5) resulting in renal failure. This study was designed to investigate sex-phenotype correlations and evaluate the contribution of macrophage infiltration to disease progression using Col4a3 ...
Munkyung Kim, Alessandro Piaia, Neeta Shenoy, David Kagan, Berangere Gapp, Benjamin Kueng, Delphine Weber, William Dietrich, Iwona Ksiazek   +8 more
doaj   +1 more source

Case report: Unilateral panuveitis as a manifestation of Alport syndrome in a Chinese pediatric patient

Frontiers in Genetics, 2022
Purpose: The study aimed to report a rare case of a patient with Alport syndrome, which was manifested as unilateral non-infectious uveitis after bilateral cataract surgery.Methods: A case report.Results: A 2-year-old boy was diagnosed with unilateral ...
Yu Tian, Yu Tian, Xiaochuan Wu, Yongzhen Li, Wenbin He, Zibin Liu, Frank L. Myers, Liang Zhou   +7 more
doaj   +1 more source

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

The FEBS Journal, EarlyView.
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

Prevalence and outcome of lens capsule disruption in routine canine cataract surgery: A retrospective study of 520 eyes (2012–2019)

Veterinary Ophthalmology, Volume 28, Issue 2, Page 141-149, March 2025.
Abstract Objective To investigate the prevalence and surgical outcome of lens capsule disruption (LCD) in dogs undergoing cataract removal. Animals studied Medical records of 924 eyes undergoing phacoemulsification were analyzed retrospectively. Procedures Routine cataract surgeries with or without LCD were included. Any LCD other than routine anterior
Amy L. M. M. Andrews, Christiane Kafarnik, Maria‐Christine Fischer   +2 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

COL12A1 rs970547 Polymorphism Predisposes Anterior Cruciate Ligament Injury by Inducing ER Stress and Impairing Fibroblast Function

Advanced Biology, Volume 10, Issue 5, May 2026.
The COL12A1 rs970547(A/A) polymorphism is over‐represented in Chinese male anterior cruciate ligament (ACL) injury patients. This variant destabilizes COL12A1 protein without altering transcript levels, driving compensatory upregulation of other collagen genes and inducing endoplasmic reticulum stress in ACL‐derived fibroblasts.
Wenchuan Zhao, Hong Chen, Junwei Wang, Yixin Li, Rui Chen, Jingyi Zhou   +5 more
wiley   +1 more source

Alport Syndrome: case report and review of ocular manifestations

, 1970
Background: Alport Syndrome is an uncommon disease. Case: We report a case of a young Indian male who presented with the characteristic ocular findings and systemic features of Alport Syndrome.
VK Malik, Sanjeev Kumar, Sandeep Kumar, Kirti Jain, Reny Kamboj, Charu Jain   +5 more
core   +1 more source

Effect of Instructional Guidelines on Mothers' Knowledge and Stress Regarding their Children’s Alport Syndrome [PDF]

Egyptian Journal of Health Care
Background: Alport syndrome is defined as a genetic kidney illness that often leads to renal failure and gradually impairs kidney function. Some types of Alport syndrome can cause several negative outcomes, including mothers becoming more worried about ...
Mona Ibrahim Mohammed Abouzeid, Doaa Bahig Anwr Akl, Maha Mahmoud Saadoon, Hala Samir Ahmed El-Husseiny, Jehan Mahmoud Farrag Abdalla   +4 more
doaj   +1 more source