Results 31 to 40 of about 2,184 (189)
Hyperthermia in the course of tetany in a child with Dent’s disease – case report
Pediatria Polska, 2023 Tetany is a condition in which serum electrolyte disturbances lead to increased neuronal excitability. We describe a case of life-threatening tetany in a 2.5-year-old boy with Dent’s disease linked with the CLCN5 gene.
Beata Banaszak +3 more
doaj +1 more source
The Concise Guide to PHARMACOLOGY 2023/24: Ion channels
British Journal of Pharmacology, Volume 180, Issue S2, Page S145-S222, October 2023., 2023 The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander +72 more
wiley +1 more source
Journal of Neurochemistry, Volume 167, Issue 1, Page 52-75, October 2023., 2023 Astrocytes interact with neighboring cells, including neurons and endothelia. Neurons induce maturation of the astrocyte transcriptome and endothelia induce expression of a few markers of mature astrocytes. However, it is not known if and how neurons and endothelia interact to regulate the astrocyte transcriptome.
Zila Martinez‐Lozada +5 more
wiley +1 more source
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 +5 more
doaj +1 more source
CLCN5 gene abnormality in patients with idiopathic tubular proteinuria.
Nihon Shoni Jinzobyo Gakkai Zasshi, 1996 Dentらが報告した患者を含む8家系の患者を1990年WrongらはDent病と命名した。1995年ThakkerらはDent病の責任遺伝子CLCN5をクローニングし，翌年Dent病におけるCLCN5の遺伝子異常を解明した。一方，私どもは1994年より本症の臨床症状が1980年に岡田らがわが国で初めてその臨床的特異性を明らかにし独立の疾患であることを提唱した特発性尿細管性蛋白尿症に類似する事を指摘していた。今回私どもは鈴木の暫定的診断基準 (表1) を満たす特発性尿細管性蛋白尿症14家系中10家系 (71%) にクロライドチャンネルN5 (CLCN5) の遺伝子異常 (nonsense mutation 4家系，missense mutation 3家系，frameshift mutation ...
Takashi Igarashi +8 more
openaire +2 more sources
Skin Research and Technology, Volume 29, Issue 10, October 2023., 2023 Abstract Background Extramammary Paget's disease (EMPD) is a rare cutaneous malignant tumor with a high recurrence rate after surgery. However, the genetic and epigenetic alterations underlying its pathogenesis remain unknown. DNA methylation is an important epigenetic modification involved in many biological processes. Methods In this study, enzymatic
Ziwei Kang +7 more
wiley +1 more source
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 +6 more
wiley +1 more source
Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report
Frontiers in Pediatrics, 2021 Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen +4 more
doaj +1 more source
An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes [PDF]
European Journal of Human Genetics, 2012 Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent's disease carry no CLCN5/OCRL mutations.
Maria Addis +9 more
openaire +4 more sources
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 +6 more
wiley +1 more source