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SLC26A3 mutations in congenital chloride diarrhea
scientific article (publication date: December 2002)
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title
SLC26A3 mutations in congenital chloride diarrhea
(English)
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main subject
congenital disorder
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diarrhea
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author
Juha Kere
series ordinal
2
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Christer Holmberg
series ordinal
3
object named as
Christer Holmberg
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author name string
Siru Mäkelä
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1
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Pia Höglund
series ordinal
4
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language of work or name
English
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publication date
December 2002
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published in
Human Mutation
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volume
20
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page(s)
425-38
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issue
6
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cites work
Congenital chloride diarrhoea: case report and review of the literature
1 reference
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Crossref
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7 January 2021
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Congenital chloride diarrhea: A single center experience with ten patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disease-causing mutations in the human genome
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
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The STAS domain - a link between anion transporters and antisigma-factor antagonists
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
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Congenital chloride diarrhoea in Kuwait: a clinical reappraisal
1 reference
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Crossref
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7 January 2021
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Pathogenesis of congenital alkalosis with diarrhea. Implications for the physiology of normal ileal electrolyte absorption and secretion
1 reference
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reference URL
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7 January 2021
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Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
1 reference
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Crossref
reference URL
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7 January 2021
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Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation
1 reference
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Crossref
reference URL
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7 January 2021
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Enteropathies associated with protracted diarrhea of infancy: clinicopathological features, cellular and molecular mechanisms
1 reference
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Crossref
reference URL
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7 January 2021
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Disease gene mapping in isolated human populations: the example of Finland
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
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inferred from DOI database lookup
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
1 reference
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reference URL
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7 January 2021
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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
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Crossref
reference URL
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7 January 2021
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Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea
1 reference
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Crossref
reference URL
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7 January 2021
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Intestinal NaCl transport in NHE2 and NHE3 knockout mice
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Downregulated in adenoma and putative anion transporter are regulated by CFTR in cultured pancreatic duct cells
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
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inferred from DOI database lookup
Genomic structure of the human congenital chloride diarrhea (CLD) gene
1 reference
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reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
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inferred from DOI database lookup
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping
1 reference
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Crossref
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7 January 2021
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Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
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Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
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Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
1 reference
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Crossref
reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Colonic electrolyte transport in health and in congenital chloride diarrhea
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
The renal lesion in congenital chloride diarrhea
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Electrolyte Economy and Its Hormonal Regulation in Congenital Chloride Diarrhea
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital Na+ diarrhea: a new type of secretory diarrhea
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital chloride diarrhea. A study in Arab children.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal ultrasonic findings in congenital chloride diarrhoea
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
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inferred from DOI database lookup
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
The role of NHERF and E3KARP in the cAMP-mediated inhibition of NHE3.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital chloride diarrhoea in Kuwaiti children
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reciprocal electromechanical properties of rat prestin: the motor molecule from rat outer hair cells
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Chloride transport in human proximal colonic apical membrane vesicles
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Global mortality, disability, and the contribution of risk factors: Global Burden of Disease Study
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital lactase deficiency. A clinical study on 16 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Pendred syndrome gene encodes a chloride-iodide transport protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pattern of protracted diarrhoea among children in Kuwait
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intestinal bile acid transport: biology, physiology, and pathophysiology
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton
1 reference
stated in
Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Down regulated in Adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recognition of unique carboxyl-terminal motifs by distinct PDZ domains
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
E3KARP mediates the association of ezrin and protein kinase A with the cystic fibrosis transmembrane conductance regulator in airway cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Electrolyte absorption from the colon
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormalities in intestinal electrolyte transport in congenital chloridorrhoea
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of a protein cofactor that mediates protein kinase A regulation of the renal brush border membrane Na(+)-H+ exchanger
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CFTR induces the expression of DRA along with Cl(-)/HCO(3)(-) exchange activity in tracheal epithelial cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
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7 January 2021
based on heuristic
inferred from DOI database lookup
Japanese siblings with congenital chloride diarrhea
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prestin is the motor protein of cochlear outer hair cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10139
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.10139
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PubMed ID
12442266
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