Results 41 to 50 of about 5,140 (191)

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

Human Genomics, 2022
Background Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles in cilium organization and function.
Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou   +6 more
doaj   +1 more source

Complementary Yield of Gene Panel Testing and ACMG SF v3.3 Screening for Cardiovascular Disease in a Korean Cohort

Clinical Genetics, EarlyView.
Phenotype‐directed gene panel testing and opportunistic ACMG SF v3.3 screening identified distinct, complementary cardiovascular genetic risks in a Korean cohort. Panel testing achieved a 20.0% yield enriched for arrhythmia/cardiomyopathy genes, whereas opportunistic exome screening revealed a 5.6% yield dominated by TTN‐related cardiomyopathy and ...
Jihye You, Lae‐Young Jung, Sun Hwa Lee, Joonhong Park   +3 more
wiley   +1 more source

Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome

Renal Replacement Therapy, 2020
Background Senior–Løken syndrome (SLS) and Bardet–Biedl syndrome (BBS) are ciliopathies. SLS is characterized by retinitis pigmentosa (RP) and familial nephronophthisis, leading to end-stage kidney disease, while BBS is characterized by six major ...
Yuko Fujii, Hideki Matsumura, Akihiko Shirasu, Hyogo Nakakura, Satoshi Yamazaki, Naoya Morisada, Kazumoto Iijima, Akira Ashida   +7 more
doaj   +1 more source

GATA2 Deficiency Presenting With a WHIM‐Like Phenotype and Subsequent Development of Monosomy 7‐Associated Myelodysplastic Syndrome in an Adolescent Female: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT We report an 18‐year‐old female with GATA2 deficiency presenting with a WHIM‐like phenotype, including pancytopenia, monocytopenia, CD19+ B‐cell depletion, sensorineural hearing loss, and cutaneous warts. Subsequent cytogenetic evaluation revealed monosomy 7 and 7q22 deletion, with bone marrow progression to MDS.
Aziz Eghbali, Meshkat Poortavakol, Hamideh Sadat Mirmohammadi   +2 more
wiley   +1 more source

Mechanisms of Nephronophthisis and Related Ciliopathies

, 2010
An emerging group of human genetic diseases termed ‘ciliopathies’ are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium.
Toby W. Hurd, Friedhelm Hildebrandt
core   +1 more source

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

Frontiers in Pediatrics, 2018
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults.
Shalabh Srivastava, Shalabh Srivastava, Elisa Molinari, Shreya Raman, John A. Sayer, John A. Sayer   +5 more
doaj   +1 more source

International Collaboration in Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 11, November 2026.
ABSTRACT Primary Ciliary Dyskinesia (PCD) exemplifies how international collaboration can transform the study of a rare disease. Since the identification of the first PCD‐associated genes in 1999–2002, parallel developments in Europe and North America, driven by patient organizations, academic investigators, and coordinated funding initiatives, have ...
Petra Pennekamp, Michele Manion, Heymut Omran   +2 more
wiley   +1 more source

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Frontiers in Pediatrics, 2018
Nephronophthisis (NPH) is the most common monogenic cause of renal failure in children. Treatment options are limited to dialysis and transplantation. Therapeutics to significantly delay or prevent end-stage renal disease (ESRD) in children are currently
Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers   +7 more
doaj   +1 more source

Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation

Frontiers in Cell and Developmental Biology
Juvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults.
Yutaka Arai, Yutaka Arai, Hidenori Ito, Tomoya Shimizu, Tomoya Shimizu, Yuzuno Shimoda, Yuzuno Shimoda, Dan Song, Mami Matsuo-Takasaki, Tadayoshi Hayata, Yohei Hayashi, Yohei Hayashi   +11 more
doaj   +1 more source