SLC26A3 mutations in congenital chloride diarrhea (Q28215471)

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital chloride diarrhea: A single center experience with ten patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Disease-causing mutations in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The STAS domain - a link between anion transporters and antisigma-factor antagonists

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital chloride diarrhoea in Kuwait: a clinical reappraisal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Pathogenesis of congenital alkalosis with diarrhea. Implications for the physiology of normal ileal electrolyte absorption and secretion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Enteropathies associated with protracted diarrhea of infancy: clinicopathological features, cellular and molecular mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Disease gene mapping in isolated human populations: the example of Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Intestinal NaCl transport in NHE2 and NHE3 knockout mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Downregulated in adenoma and putative anion transporter are regulated by CFTR in cultured pancreatic duct cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Genomic structure of the human congenital chloride diarrhea (CLD) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Colonic electrolyte transport in health and in congenital chloride diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The renal lesion in congenital chloride diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Electrolyte Economy and Its Hormonal Regulation in Congenital Chloride Diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital Na+ diarrhea: a new type of secretory diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital chloride diarrhea. A study in Arab children.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Prenatal ultrasonic findings in congenital chloride diarrhoea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The role of NHERF and E3KARP in the cAMP-mediated inhibition of NHE3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital chloride diarrhoea in Kuwaiti children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Reciprocal electromechanical properties of rat prestin: the motor molecule from rat outer hair cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Chloride transport in human proximal colonic apical membrane vesicles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Global mortality, disability, and the contribution of risk factors: Global Burden of Disease Study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Congenital lactase deficiency. A clinical study on 16 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Pattern of protracted diarrhoea among children in Kuwait

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Intestinal bile acid transport: biology, physiology, and pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

The Down regulated in Adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Recognition of unique carboxyl-terminal motifs by distinct PDZ domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

E3KARP mediates the association of ezrin and protein kinase A with the cystic fibrosis transmembrane conductance regulator in airway cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Electrolyte absorption from the colon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Abnormalities in intestinal electrolyte transport in congenital chloridorrhoea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Characterization of a protein cofactor that mediates protein kinase A regulation of the renal brush border membrane Na(+)-H+ exchanger

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

CFTR induces the expression of DRA along with Cl(-)/HCO(3)(-) exchange activity in tracheal epithelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Japanese siblings with congenital chloride diarrhea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

Prestin is the motor protein of cochlear outer hair cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021

cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger 3 (NHE3) are dependent on the presence but not the phosphorylation of NHE regulatory factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10139

7 January 2021