Results 31 to 40 of about 8,333 (256)

Nephronophthisis and central veins abnormalities: A case report

Clinical Case Reports, 2021
Patients with genetic disorders are potentially more susceptible to present vascular abnormalities compared to the general population. For these patients, unusual difficulties could appear during a CVC placement procedure that could lead to major ...
Mohamed Amine Rahil, Messaoud Hadjmhamed
doaj   +1 more source

Nephronophthisis [PDF]

Pediatric Nephrology, 2010
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L).
Matthias T F, Wolf, Friedhelm, Hildebrandt   +1 more
openaire   +2 more sources

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

Senior Loken Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2016
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease.
Amarpreet Kaur, Shashi Kant Dhir, Geetika Goyal, Naveen Mittal, R.K. Goyal   +4 more
doaj   +1 more source

IL1β is induced in nephronophthisis but does not mediate kidney damage. [PDF]

Genes Dis
Ferri G, El Hamdaoui M, Martin J, Kuehn EW, Bienaimé F, Saunier S, Viau A.   +6 more
europepmc   +2 more sources

Nephronophthisis type 1 in an adolescent girl: peculiarities of diagnosis and course

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
Nephronophthisis type 1, juvenile (OMIM 256100) is a rare ciliopathy with an autosomal recessive type of inheritance, which is the most common genetic cause of terminal chronic renal failure in children and young adults. The development of this pathology
Natalia Zaikova, V. A. Magon, М. П. Сафонова, Л. С. Балева   +3 more
openalex   +2 more sources

Case Report: Effects of Secondary Hyperparathyroidism Treatment on Improvement of Juvenile Nephronophthisis-Induced Pancytopenia and Myelofibrosis

Frontiers in Pediatrics, 2021
Secondary hyperparathyroidism (HPT) is a common complication of end-stage renal disease (ESRD) and may be an important precipitating factor for the development of myelofibrosis.
Keishiro Amano, Hidemi Toyoda, Kouhei Nishikawa, Tomohiro Murata, Masahiro Hirayama   +4 more
doaj   +1 more source

Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant

The American journal of case reports, 2023
Patient: Female, 19-year-old Final Diagnosis: Nephronophthisis Symptoms: Fatigue • poor appetite Clinical Procedure: — Specialty: Genetics • Nephrology Objective: Rare disease Background: Nephronophthisis, an autosomal recessive ciliopathy involving ...
Oyintayo Ajiboye, Jaime Vengoechea, Ritu Gupta, Koba A. Lomashvili   +3 more
openalex   +3 more sources

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy
et al,, Montague, Michael J
core   +7 more sources

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source