Screening for CLCN5 mutation in renal calcium stone formers patients

Screening for CLCN5 mutation in renal calcium stone formers patients

Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible m...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Maria Alice P. Rebelo, Vera Tostes, Nordeval C. Araújo, Sabrina V. Martini, Bruno F. Botelho, William B. Guggino, Marcelo M. Morales
Định dạng:	Bài viết
Ngôn ngữ:	English
Được phát hành:	Academia Brasileira de Ciências 2005-03-01
Loạt:	Anais da Academia Brasileira de Ciências
Những chủ đề:	nefrolitíase nefrocalcinose proteinúria de baixo peso molecular mutação do CLCN5 nephrolithiasis nephrocalcinosis low-molecular-weight proteinuri CLCN5 mutation
Truy cập trực tuyến:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652005000100007

Những quyển sách tương tự

A novel likely pathogenic CLCN5 variant in Dent’s disease
Bằng: S Hayward, et al.
Được phát hành: (2023-08-01)

A Tunisian patient with CLCN2‐related leukoencephalopathy
Bằng: Dina Ben Mohamed, et al.
Được phát hành: (2022-12-01)

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report
Bằng: Jiajia Ni, et al.
Được phát hành: (2022-11-01)

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
Bằng: Magdalena Danyel, et al.
Được phát hành: (2019-01-01)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Bằng: Mohammad Miryounesi, et al.
Được phát hành: (2016-09-01)

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study
Bằng: Ruijue Zhu, et al.
Được phát hành: (2024-01-01)

Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
Bằng: Chung‐Lin Lee, et al.
Được phát hành: (2024-07-01)

Clinical features and genetic analysis of 15 Chinese children with dent disease
Bằng: Qian Li, et al.
Được phát hành: (2024-12-01)

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report
Bằng: Qiaoping Chen, et al.
Được phát hành: (2021-09-01)

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease
Bằng: Haiyue Deng, et al.
Được phát hành: (2020-08-01)

Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review
Bằng: Lei Wei, et al.
Được phát hành: (2020-10-01)

Modulation of blood pressure regulatory genes in the Agtrap‐Plod1 locus associated with a deletion in Clcn6
Bằng: Christine A. Klemens, et al.
Được phát hành: (2022-08-01)

Identification and validation of a signature involving voltage-gated chloride ion channel genes for prediction of prostate cancer recurrence
Bằng: Yong Luo, et al.
Được phát hành: (2022-09-01)

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
Bằng: Chaoping Hu, et al.
Được phát hành: (2021-11-01)

Aislamiento y caracterización de vesículas extracelulares enriquecidas en exosomas en pacientes españoles con enfermedad de Dent 1
Bằng: Carla Burballa, et al.
Được phát hành: (2023-12-01)

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
Bằng: Odelia Chorin, et al.
Được phát hành: (2020-10-01)

A novel homozygous splice site variant in the CLCN7 causes osteopetrosis
Bằng: Zeinab Klaab, et al.
Được phát hành: (2023-01-01)

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports
Bằng: Min Wen, et al.
Được phát hành: (2018-12-01)

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)
Bằng: Yuhong Ye, et al.
Được phát hành: (2020-05-01)

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence
Bằng: Kevin Jehasse, et al.
Được phát hành: (2021-02-01)

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene
Bằng: Nezir Özgün, et al.
Được phát hành: (2020-06-01)

MUTATION IN THE CLCN7 GENE CAUSING AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE Ⅱ: A CASE REPORT AND LITERATURE REVIEW
Bằng: LIU Xueting, WANG Shuangyi
Được phát hành: (2023-12-01)

Dent’s disease: case series from a single center
Bằng: Hilal Yaşar, et al.
Được phát hành: (2024-11-01)

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability
Bằng: Sinan Li, et al.
Được phát hành: (2023-09-01)

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in <i>CLCN1</i>
Bằng: Leah K. Manning, et al.
Được phát hành: (2024-12-01)

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient
Bằng: Jing Miao, et al.
Được phát hành: (2018-09-01)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
Bằng: Chiara Orsini, et al.
Được phát hành: (2020-02-01)

Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy
Bằng: Yizhe Cheng, et al.
Được phát hành: (2023-11-01)

Mutations associated with Dent’s disease affect gating and voltage dependence of the human anion/proton exchanger ClC-5
Bằng: Alexi eAlekov
Được phát hành: (2015-05-01)

Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy
Bằng: Raul E. Guzman, et al.
Được phát hành: (2022-05-01)

A novel missense mutation in the <it>CLCN7</it> gene linked to benign autosomal dominant osteopetrosis: a case series
Bằng: Rashid Ban Mousa, et al.
Được phát hành: (2013-01-01)

Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers
Bằng: Xi Chen, et al.
Được phát hành: (2025-02-01)

Clcn3 deficiency ameliorates high-fat diet-induced obesity and improves metabolism in mice
Bằng: Sirui Duan, et al.
Được phát hành: (2024-05-01)

CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report
Bằng: Masayuki Ohira, et al.
Được phát hành: (2024-10-01)

Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent’s disease type 1 Spanish patients
Bằng: Carla Burballa, et al.
Được phát hành: (2023-12-01)

Generation of a human induced pluripotent stem cell line from a patient with dent disease
Bằng: Xianying Fang, et al.
Được phát hành: (2023-09-01)

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
Bằng: Wejdan Almasoudi, et al.
Được phát hành: (2023-01-01)

Хлорни каналопатии
Bằng: Stanislava Blagoeva, et al.
Được phát hành: (2023-09-01)

Фенотип-генотип корелации при пациенти с вродена миотония тип Бекер
Bằng: Stanislava Blagoeva, et al.
Được phát hành: (2023-09-01)

Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1
Bằng: Nicolette Murphey, et al.
Được phát hành: (2024-11-01)