Results 11 to 20 of about 8,333 (256)

SOX9-dependent fibrosis drives renal function in nephronophthisis [PDF]

EMBO Molecular Medicine
Fibrosis is a key feature of a broad spectrum of cystic kidney diseases, especially autosomal recessive kidney disorders such as nephronophthisis (NPHP).
Maulin Mukeshchandra Patel, Vasileios Gerakopoulos, Bryan Lettenmaier, Eleni Petsouki, Kurt A Zimmerman, John A Sayer, Leonidas Tsiokas   +6 more
doaj   +3 more sources

Nephronophthisis [PDF]

Pediatric Nephrology, 2008
Abstract Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
Salomon, Rémi, Saunier, Sophie, Niaudet, Patrick   +2 more
semanticscholar   +8 more sources

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype. [PDF]

Nephron
INTRODUCTION Nephronophthisis (NPHP) is an autosomal recessive kidney disease resulting mainly from primary cilium defects, with unspecific and variable symptoms that can progress to kidney failure needing replacement therapy at a young age.
Claus LR, Snoek R, Faber S, Roskothen-Shevchuk AJC, Sendino Garví E, Peters EDJ, Savelberg SMC, Duran K, van der Zwaag B, Nguyen TQ, Broekhuizen R, Brummelhuis WJ, Rookmaaker M, van der Veen SW, Elferink MG, Karras A, Raymond L, Mousseaux C, Sadeghi-Alavijeh O, Sayer JA, Olinger E, Neatu R, Klämbt V, Stokman MF, Knoers NVAM, Tessadori F, Gale DP, Boldt K, Ueffing M, Slaats GG, Roepman R, Hildebrandt F, Mesnard L, van Haaften G, van Eerde AM.   +34 more
europepmc   +3 more sources

A case report of NPHP1 deletion in Chinese twins with nephronophthisis [PDF]

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   +2 more sources

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   +2 more sources

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Kidney International Reports
Introduction: Primary cilia (PCs) are sensory antennae that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimuli.
Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean-Philippe Annereau, Sophie Saunier, Alexandre Benmerah   +13 more
doaj   +3 more sources

Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: Inherited retinal diseases, particularly ciliopathies, often lead to irreversible blindness and are frequently accompanied by systemic manifestations such as nephronophthisis.
Jakob M. Pericak, Eric K. Chin, David R.P. Almeida   +2 more
doaj   +2 more sources

A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature

Molecular Genetics & Genomic Medicine, 2022
Background Nephronophthisis type 12 (NPHP 12) is a rare cilia‐related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys, which generally occurs in children. Our study aimed to illustrate its clinical, pathological and genetic
Dan Wang, Xionghui Chen, Qiong Wen, Zhijian Li, Wei Chen, Wenfang Chen, Xin Wang   +6 more
doaj   +2 more sources

Repurposing small molecules for nephronophthisis and related renal ciliopathies [PDF]

Kidney International, 2023
Alexandre Benmerah, Luis Briseño-Roa, Jean‐Philippe Annereau, Sophie Saunier   +3 more
openalex   +2 more sources

[Nephronophthisis]. [PDF]

Minerva nefrologica, 1977
F, Perfumo, L, Formicucci, M, Sarperi, R, Gusmano   +3 more
  +8 more sources