Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.

Endocrine journal - 1 Feb 2002

Tajima Toshihiro, Kobayashi Yuichi, Abe Shuji, Takahashi Michiko, Konno Mutsuko, Nakae Jun, Okuhara Kouji, Satoh Kouhei, Ishikawa Takeshi, Imai Toshio, Fujieda Kenji

Abstract excerpt

Gitelman syndrome is a renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria due to the defective tubular reabsorption of magnesium and potassium. This disease is caused by mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene. Gitelman syndrome is usually distinguished from Bartter syndrome by the presence of both hypomagnesemia and hypocalciuria. However, a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins
Share to Hypokalemic Periodic Paralysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to Receptors, Drug

Share to Sequence Analysis, DNA

Share to Sodium Chloride Symporters

Share to Solute Carrier Family 12, Member 3

Share to Symporters

Source

Identifiers

PMID: 12008755
DOI: 10.1507/endocrj.49.91

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.PMID 12008755Read ↗

Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's SyndromeSemantic proximity Read ↗

A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.Semantic proximity Read ↗

A rare case of Gitelman's syndrome presenting with hypocalcemia and osteopenia.Semantic proximity Read ↗

Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.Semantic proximity Read ↗

Gitelman's syndrome with mental retardation.Semantic proximity Read ↗

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.Semantic proximity Read ↗

Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter.Semantic proximity Read ↗

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.Semantic proximity Read ↗

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.Semantic proximity Read ↗

Gitelman's syndrome: a pathophysiological and clinical update.Semantic proximity Read ↗

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.