Results 31 to 40 of about 1,469 (156)

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification [PDF]

Human Mutation, 2018
Dent disease is an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5, have been reported in patients with Dent disease 1.
Bignon, Yohan, Alekov, Alexi, Frachon, Nadia, Lahuna, Olivier, Jean-Baptiste Doh-Egueli, Carine, Deschênes, Georges, Vargas-Poussou, Rosa, Lourdel, Stéphane   +7 more
openaire   +3 more sources

Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an “in‐house” target enrichment next generation sequencing—Solution for non‐centralized NIPT laboratory?

Prenatal Diagnosis, Volume 43, Issue 10, Page 1320-1332, September 2023., 2023
Abstract Objective Recent studies have integrated copy number variant (CNV) and gene analysis using target enrichment. Here, we transferred this concept to our routine genetics laboratory, which is not linked to centralized non‐invasive prenatal testing (NIPT) facilities.
Lucie Faldynová, Sylwia Walczysková, Dita Černá, Monika Kudrejová, Šárka Hilscherová, Romana Kaniová, Simona Širůčková   +6 more
wiley   +1 more source

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

BMC Medical Genomics, 2019
Background Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a
Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn   +5 more
doaj   +1 more source

Burosumab in Unidentifiable Tumor-Induced Osteomalacia. [PDF]

Clin Case Rep
ABSTRACT Tumor‐induced osteomalacia (TIO) can be challenging due to underlying tumors being either unresectable or unidentifiable. Burosumab, an anti‐FGF23 monoclonal antibody, has been proven to be effective in treating TIO but is currently not subsidized for this indication in Australia.
Der YS, Chaubey S, Mclean A, Trinh Y, Pember S, Sinha A.   +5 more
europepmc   +2 more sources

RNA Sequencing of Urine‐Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta

Journal of Bone and Mineral Research, Volume 38, Issue 8, Page 1125-1134, August 2023., 2023
ABSTRACT DNA sequencing is a reliable tool for identifying genetic variants in osteogenesis imperfecta (OI) but cannot always establish pathogenicity, particularly in variants altering splicing. RNA sequencing can provide functional evidence of the effect of a variant on the transcript but requires cells expressing the relevant genes.
Karissa Ludwig, Zenghui Wu, Ghalib Bardai, Patrizia Mason, Leanne M Ward, Pierre Moffatt, Frank Rauch   +6 more
wiley   +1 more source

New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study

Molecular Genetics &Genomic Medicine, Volume 11, Issue 7, July 2023., 2023
Our findings have important implications for the precise diagnosis of childhood nephropathy and may provide clinical guideline for disease management. Abstract Background Kidney disease of children markedly affects their health and development. Limited clinical data of early‐stage kidney disease render a tremendous challenge for the accurate diagnosis.
Yi Chen, Yuanzhen Zhang, Jun Huang, Yugui Zeng, Yifang Qian, Junyan Chen, Guangming Chen, Guizhi Xia, Chengfeng Wang, Ai Feng, Zheng Li, Li Chen, Sirui Zheng, Fenrong Li, Zengfeng Weng, Chuanyin Zhang, Yuen Yang, Jinfeng Lin, Jinrong Wu, Hannan Zhang, Wenhua Ouyang, Xiaojing Nie   +21 more
wiley   +1 more source

IL-4 Up-Regulates MiR-21 and the MiRNAs Hosted in the CLCN5 Gene in Chronic Lymphocytic Leukemia. [PDF]

PLoS ONE, 2015
Interleukin 4 (IL-4) induces B-cell differentiation and survival of chronic lymphocytic leukemia (CLL) cells. MicroRNAs (miRNAs) regulate mRNA and protein expression, and several miRNAs, deregulated in CLL, might play roles as oncogenes or tumor ...
Natalia Ruiz-Lafuente, María-José Alcaraz-García, Silvia Sebastián-Ruiz, Azahara-María García-Serna, Joaquín Gómez-Espuch, José-María Moraleda, Alfredo Minguela, Ana-María García-Alonso, Antonio Parrado   +8 more
doaj   +1 more source

Aislamiento y caracterización de vesículas extracelulares enriquecidas en exosomas en pacientes españoles con enfermedad de Dent 1

Nefrología, 2023
Resumen: Antecedentes y objetivo: La enfermedad de Dent tipo 1 (DD1) es una enfermedad hereditaria rara ligada al cromosoma X causada por mutaciones en el CLCN5 que se caracteriza principalmente por una disfunción del túbulo proximal, hipercalciuria ...
Carla Burballa, Mònica Duran, Cristina Martínez, Gema Ariceta, Gerard Cantero-Recasens, Anna Meseguer   +5 more
doaj   +1 more source

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

BMC Nephrology, 2021
Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li   +5 more
doaj   +1 more source

Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease [PDF]

Clinical Kidney Journal, 2017
Dent's disease is characterized by manifestations of proximal tubule dysfunction including hypercalciuria, kidney stones, proteinuria, rickets and progressively declining kidney function. The diagnosis is based on the presence of low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones ...
Fischer, Anne Sophie, Marcussen, Niels, Rasmussen, Maria, Randers, Else   +3 more
openaire   +4 more sources