Results 51 to 60 of about 4,241 (146)

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, Volume 40, Issue 7, Page 1233-1247, July 2025.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, Volume 13, Issue 5, Page 1044-1064, July 2025.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

Molecular Genetics & Genomic Medicine
Background Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation ...
Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang   +6 more
doaj   +1 more source

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease

Kidney International Reports
Introduction: Nephronophthisis (NPH) is a renal ciliopathy characterized by chronic tubulointerstitial fibrosis. Despite discovery of multiple disease genes, mechanisms of NPH-associated kidney degeneration remain poorly understood.
Christin Findeisen, Maria Papazian, Linda Pöschla, Anastasia Ertel, Wenjun Jin, Nydia Panitz, Elena Hantmann, Paul Coucke, Firdous Abdulwahab, Lama AlAbdi, Fawzan S. Alkuraya, May Salem, Hamad Alzaidan, Kai-Uwe Eckardt, Søren T. Christensen, Alexandre Benmerah, Sophie Saunier, Jan Halbritter, Ria Schönauer   +18 more
doaj   +1 more source

A case report of NPHP1 deletion in Chinese twins with nephronophthisis

BMC Medical Genetics, 2020
Background Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life.
Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao, Bo Zhang   +6 more
doaj   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

A Rare Diagnosis of Caroli Syndrome in a Young Patient

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Elaheh Karimzadeh‐Soureshjani, Farab Pourhasan, Pouria Ahmadi Simab, Sajjad Shojaei, Yasaman Mohammadian   +4 more
wiley   +1 more source

Joubert syndrome with nephronophthisis in neurofibromatosis type 1

Saudi Journal of Kidney Diseases and Transplantation, 2011
Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation.
Javed Ahmed, Uma S Ali
doaj  

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies

Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.
Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin, Jialian Bai, Xiaochong He, Wenjuan He, Hongming Miao, Mengjie Zhang, Zhongying Yu, Bing Ni   +7 more
wiley   +1 more source