Results 31 to 40 of about 1,877 (178)

Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9

Stem Cell Research, 2023
NPHP1 (Nephrocystin 1) is a protein that localizes to the transition zone of the cilium, a small organelle that projects from the plasma membrane of most cells and allows for integration and coordination of signalling pathways during development and ...
Emma Dyke, Chantal Bijnagte-Schoenmaker, Ka Man Wu, Astrid Oudakker, Ronald Roepman, Nael Nadif Kasri   +5 more
doaj   +1 more source

Phenotype Spectrum in Tunisian Population with NPHP1 Deletion

Indian Journal of Nephrology, 2023
Abstract Introduction: Nephronophthisis (NPHP) is a tubulointerstitial kidney disorder with an autosomal recessive inheritance pattern. Its genetic heterogeneity contributes to phenotype variability. The most frequent etiology of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. This
Hammi, Yousra, Ferjani, Maryem, Meddeb, Rym, Kacem, Rania, Sayari, Taha, Mrad, Ridha, Gargah, Tahar   +6 more
openaire   +2 more sources

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion [PDF]

Pediatric Nephrology, 2011
Nephronophthisis (NPHP) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts. NPHP leads to end-stage renal failure (ESRD) in the first three decades of life and is the most frequent genetic cause of chronic renal failure in children and young adults.
Julia, Hoefele, Ahmet, Nayir, Moumita, Chaki, Anita, Imm, Susan J, Allen, Edgar A, Otto, Friedhelm, Hildebrandt   +6 more
openaire   +2 more sources

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4

Frontiers in Molecular Biosciences, 2023
Renal epithelial cells are subjected to fluid shear stress of urine flow. Several cellular structures act as mechanosensors–the primary cilium, microvilli and cell adhesion complexes–that directly relay signals to the cytoskeleton to regulate various ...
Meriem Garfa Traoré, Meriem Garfa Traoré, Federica Roccio, Caterina Miceli, Giulia Ferri, Mélanie Parisot, Nicolas Cagnard, Marie Lhomme, Nicolas Dupont, Alexandre Benmerah, Sophie Saunier, Marion Delous   +11 more
doaj   +1 more source

Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion

Stem Cell Research, 2020
Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated
Yutaka Arai, Miho Takami, Yuri An, Mami Matsuo-Takasaki, Yasuko Hemmi, Tamami Wakabayashi, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Keisuke Sugimoto, Tsukasa Takemura, Keisuke Okita, Kenji Osafune, Minoru Takasato, Tadayoshi Hayata, Yohei Hayashi   +15 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1.
Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Wen Pan, Wayseen Wang   +7 more
doaj   +1 more source

High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis [PDF]

Journal of the American Society of Nephrology, 2007
Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal respiratory dysregulation. Kidney involvement (nephronophthisis or cystic renal dysplasia) is associated with JS in one fourth of known cases.
Kálmán, Tory, Tiphanie, Lacoste, Lydie, Burglen, Vincent, Morinière, Nathalie, Boddaert, Marie-Alice, Macher, Brigitte, Llanas, Hubert, Nivet, Albert, Bensman, Patrick, Niaudet, Corinne, Antignac, Rémi, Salomon, Sophie, Saunier   +12 more
openaire   +2 more sources

SPATA7, CEP290, NPHP1 and FBF1 at the ^rodCep164^-/- CC or BB.

, 2022
A-D, immunohistochemistry of rodCep164+/- (upper panels) and rodCep164-/- (lower panels) cryosections probed with at P21 probed with anti-SPATA7 (A), anti-CEP290 (B), with anti-NPHP1 (E), and anti-FBF1 (D) antibodies. Note no relevant changes for SPATA7,
Guoxin Ying (2967762), Wolfgang Baehr (2540), Jeanne M. Frederick (13762736), Ken-Ichi Takemaru (51369), Michelle Reed (391022)   +4 more
core   +1 more source

Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family

BMC Nephrology, 2019
Background Nephronophthisis (NPHP) is an autosomal recessive hereditary disease with highly variable clinical characteristics for which 20 genes (NPHP1–20) have been identified.
Yiting Wang, Feng Chen, Jiali Wang, Yingwang Zhao, Fang Liu   +4 more
doaj   +1 more source

Defective INPP5E distribution In NPHP1-related Senior-Løken Syndrome [PDF]

, 2020
Senior-Løken syndrome is a rare genetic disorder which presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease and progressive blindness. The most frequent cause of juvenile nephronophthisis is mutation in the nephronophthisis type 1 (NPHP1) gene.
Ke Ning, Emilie Song, Brent Sendayen, Philipp Prosseda, Kun-Che Chang, Alireza Ghaffarieh, Jorge Alvarado, Biao Wang, Nicolas Berbari, Yang Hu, Yang Sun   +10 more
openaire   +1 more source