Results 51 to 60 of about 2,184 (189)

Heterogeneity in the processing of ClC-5 mutants related to Dent disease [PDF]

, 2011
International audienceMutations in the electrogenic Cl-/H+ exchanger ClC-5 gene CLCN5 are frequently associated with Dent disease, an X-linked recessive disorder affecting the proximal tubules. Here, we investigate the consequences in X.
Defontaine, Nadia, Genete, Mathieu, Grand, Teddy, Keck, Mathilde, L'Hoste, Sébastien, Laghmani, Kamel, Lourdel, Stéphane, Mordasini, David, Pennaforte, Thomas, Teulon, Jacques   +9 more
core   +4 more sources

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Frontiers in Medicine, 2018
Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis,
Min Wen, Min Wen, Tian Shen, Tian Shen, Ying Wang, Ying Wang, Yongzhen Li, Yongzhen Li, Xiaoliu Shi, Xiqiang Dang, Xiqiang Dang   +10 more
doaj   +1 more source

The Bioinformatics Analysis of Aldosterone-Producing Adenoma and Verification of Differentially Expressed Genes

International Journal of Endocrinology, 2021
Purpose. Previous studies have investigated the transcriptional modulations of aldosterone overproduction of aldosterone-producing adenomas (APAs). We aimed to systematically study the genes and pathways associated with molecular mechanism underlying APA
Yinjie Gao, Xiaosen Ma, Huiping Wang, Yunying Cui, Yushi Zhang, Min Nie, Anli Tong   +6 more
doaj   +1 more source

Construction of a solid Cox model for AML patients based on multiomics bioinformatic analysis

Frontiers in Oncology, 2022
Acute myeloid leukemia (AML) is a highly heterogeneous hematological malignancy. The bone marrow (BM) microenvironment in AML plays an important role in leukemogenesis, drug resistance and leukemia relapse.
Fu Li, Jiao Cai, Jiao Cai, Jia Liu, Shi-cang Yu, Xi Zhang, Yi Su, Lei Gao   +7 more
doaj   +1 more source

Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria

Kidney International, 1997
Familial idiopathic low-molecular-weight proteinuria (FILMWP) is a renal proximal tubulopathy that occurs predominantly in males. FILMWP is characterized by mild proteinuria consisting of low-molecular-weight proteinuria, aminoaciduria and relatively conserved renal function, but without rickets. To determine whether FILMWP is related to the CLCN5 gene,
Nakazato, Hitoshi, Hattori, Shinzaburo, Furuse, Akio, Kawano, Tomoyasu, Karashima, Shinnyo, Tsuruta, Motoko, Yoshimuta, Junichiro, Endo, Fumio, Matsuda, Ichiro   +8 more
openaire   +2 more sources

Replenishment of microRNA-188-5p restores the synaptic and cognitive deficits in 5XFAD Mouse Model of Alzheimer’s Disease [PDF]

, 2016
MicroRNAs have emerged as key factors in development, neurogenesis and synaptic functions in the central nervous system. In the present study, we investigated a pathophysiological significance of microRNA-188-5p (miR-188-5p) in Alzheimer’s disease (AD ...
An, Kyongman, Cha, Jin Hee, Cho, Kwangwook, Kim, Hye-Sun, Kim, Hyunju, Kim, Joung-Hun, Kim, Myoung-Hwan, Kwon, Oh-Bin, Lee, Kihwan, Lee, Yoontae, Park, Sungjun   +10 more
core   +5 more sources

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis

Scientific Reports, 2023
The spectra of underlying genetic variants for various clinical entities including focal segmental glomerulosclerosis (FSGS) vary among different populations.
Suramath Isaranuwatchai, Ankanee Chanakul, Chupong Ittiwut, Rungnapa Ittiwut, Chalurmpon Srichomthong, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Kearkiat Praditpornsilpa   +7 more
doaj   +1 more source

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes

Frontiers in Genetics, 2022
Despite the enormous economic and societal burden of chronic kidney disease (CKD), its pathogenesis remains elusive, impeding specific diagnosis and targeted therapy. Herein, we sought to elucidate the genetic causes of end-stage renal disease (ESRD) and
Manal Alaamery, Manal Alaamery, Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Salam Massadeh, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nora Aljawini, Nora Aljawini, Nour Albesher, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari, Abdullah Sayyari, Abdullah Sayyari   +25 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

Scientific Reports, 2023
Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical ...
Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga   +8 more
doaj   +1 more source