Results 41 to 50 of about 6,344 (210)

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Scientific Reports, 2023
Autosomal recessive whole gene deletions of nephrocystin-1 (NPHP1) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior–Løken ...
Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis   +8 more
doaj   +1 more source

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
openaire   +2 more sources

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome [PDF]

, 2012
Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease).
Amy Barker, Ann-Marie Hynes, Helen R. Dawe, John A. Sayer, Katriina Aalto-Setala, Lorraine Eley, Lynne M. Overman, Roslyn J. Simms, Susan Lindsay, Yu-Zhu Cheng   +9 more
core   +3 more sources

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

A polycystin-centric view of cyst formation and disease: the polycystins revisited [PDF]

, 2015
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into
Harris, P.C., Ong, A.C.M.
core   +2 more sources

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

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

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

Opportunities for renal genetic evaluation among pregnant patients with kidney disease

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Objective Chronic kidney disease (CKD) can significantly affect pregnancy management and outcomes. Although up to 40% of adults with renal disease have an identifiable genetic cause, most pregnant patients with CKD do not undergo genetic testing, hindering tailored management during and after pregnancy. We assessed which pregnant patients with
Likhita Nandigam, Christian M. Parobek, Taylor Moseley, Ansley E. Davis, Stacie G. Denning, Mir Reza, Sai K. Saridey, Hennie A. Lombaard   +7 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