Results 101 to 110 of about 1,877 (178)

NPHP1 gene deletion is a rare cause of Joubert sindrome related disorders

, 2005
Joubert syndrome (JS) is a neurological disorder characterised by a complex cerebellar and brainstem malformation, the so called ‘‘molar tooth sign’’ (MTS). JS can be associated with several abnormalities in other organs, identifying a large spectrum
E. PROCOPIO, F. EMMA, T. GALLUCCIO, M. CASTORI, S. SALVI, FAZZI, Elisa Maria, E. BERTINI, B. DALLA PICCOLA, E. M. VALENTE, M. A. DONATI   +9 more
core  

The nephronopthisis gene NPHP1 affects cilia polarity of motile cilia in Xenopus laevis

, 2012
Die Nephronophthise (NPHP) ist Nierenerkrankung, die durch Mutationen in zwölf verschiedenen Genen verursacht wird. Aktuelle Veröffentlichungen weisen auf eine mögliche Rolle von Defekten an Zilien oder der planaren Zellpolarität (PCP) in der Pathogenese
Spreitzer, Stefan
core  

Prostaglandins as a new therapeutic approach for Nephronophthisis : validation and characterisation of the mechanisms

, 2022
La Néphronophtise (NPH) est une maladie génétique rénale autosomique récessive, caractérisée par une fibrose tubulo-interstitielle progressive, parfois associée à des kystes. NPHP1 est le gène le plus fréquemment muté dans la NPH.
Serafin, Alice
core  

NPHP1 wt Allele [PDF]

, 2020
openaire   +1 more source

Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology

Kidney International Reports
Introduction: Kidney disease of unknown etiology accounts for 1 in 10 adult end-stage renal disease (ESRD) cases worldwide. The aim of this study is to clarify the genetic background of patients with chronic kidney disease (CKD) of unknown etiology who ...
Takuya Fujimaru, Takayasu Mori, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Fumiaki Ando, Yutaro Mori, Koichiro Susa, Yuta Nakano, Takao Shoji, Yuichiro Fukudome, Naoto Inaba, Kenichiro Kitamura, Taichi Nakanishi, Keiko Uchida, Toshihiro Kimura, Teiichi Tamura, Kiyoshi Ozawa, Shinichi Uchida, Eisei Sohara   +19 more
doaj   +1 more source

Wdpcp is required for cilia recruitment of Sept2, Mks1, and Nphp1.

, 2013
(A–D) Ift88 is localized correctly to the basal body and ciliary tip in the rare cilium formed in WdpcpCys40 mutant MEFs. (E–H) Nphp1 is normally found at the transition zone (E, and arrowhead in F), but in WdpcpCys40 mutant MEFs, Nphp1 is mislocalized ...
Thomas P. Lozito (490050), Richard J. Francis (490051), Xiaoqin Liu (296429), Terry Tansey (490057), Lisa M. Swanhart (490053), Chandrakala Puligilla (490055), Elias T. Spiliotis (490058), Subramaniam Sanker (256674), Zhen Zhang (86004), Qing Yu (337275), Bishwanath Chatterjee (201134), Tania Chatterjee (490056), Neil A. Hukriede (224853), Jovenal T. San Agustin (268996), Cecilia W. Lo (269000), Matthew W. Kelley (458456), Cheng Cui (289585), Gregory J. Pazour (269001), Rocky Tuan (490060), Adam V. Kwiatkowski (490059), Hisato Yagi (490052), Deanne Francis (490054)   +21 more
core   +1 more source

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure

Journal of Rare Diseases
AbstractA precise diagnosis in medicine allows appropriate disease-specific management. Kidney failure of unknown aetiology remains a frequent diagnostic label within the haemodialysis unit and kidney transplant clinic, accounting for 15–20% of these patients.
Gavin Esson, Ian Logan, Katrina Wood, Andrew C. Browning, John A. Sayer   +4 more
openaire   +2 more sources

Known SV haplotypes at the NPHP1 locus in the human 2q13 region.

, 2016
A. Comparison between human reference builds hg18 and hg19 by Miropeats. The traces between the top and bottom track represent the aligned paralogous sequences greater than 1 kb in size between the two builds.
David C. Schwartz (256989), Alexandra D. Simmons (668159), Marjorie A. Withers (207968), Tomasz Gambin (39373), R. Alan Harris (67344), Ian M. Campbell (463357), Anusha Tejomurtula (834554), Christine R. Beck (699745), Pengfei Liu (136115), Jeffrey Rogers (111351), Bo Yuan (26238), Aditya Gupta (831245), James R. Lupski (6678)   +12 more
core   +1 more source

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

American Journal of Medical Genetics Part A, 2006
Baris, Hagit, Bejjani, Bassem A, Tan, Wen‐Hann, Coulter, David L, Martin, Judith A, Storm, Andrea L, Burton, Barbara K, Saitta, Sulagna C, Gajecka, Marzena, Ballif, Blake C, Irons, Mira B, Shaffer, Lisa G, Kimonis, Virginia E   +12 more
openaire   +4 more sources

Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease. [PDF]

J Dev Biol
DeLoriea J, Casey C, Shearer L, Chen V, Bryant A, Gamberi C.   +5 more
europepmc   +1 more source