Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Nature Genetics

Volumn 29, Issue 3, 2001, Pages 310-314

  Birkenhäger, Ralf ^a   Otto, Edgar ^a   Schürmann, Maria J ^a   Vollmer, Martin ^a   Ruf, Eva Maria ^a   Maier Lutz, Irina ^a   Beekmann, Frank ^a   Fekete, Andrea ^b   Omran, Heymut ^a   Feldmann, Delphine ^c   Milford, David V ^d   Jeck, Nicola ^e   Konrad, Martin ^e   Landau, Daniel ^f   Knoers, Nine V A M ^g   Antignac, Corinne ^h   Sudbrak, Ralf ⁱ   Kispert, Andreas ^j   Hildebrandt, Friedhelm ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e Children's Hospital   (Germany)

^f BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^j HANNOVER MEDICAL SCHOOL   (Germany)

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Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; ION CHANNEL; PROTEIN BSND; UNCLASSIFIED DRUG;

ALPHA HELIX; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARTTER SYNDROME; BLOOD PRESSURE REGULATION; CONTROLLED STUDY; DIURESIS; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; HENLE LOOP; HUMAN; KIDNEY FAILURE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PEDIGREE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DETERMINATION; SALT LOSING NEPHRITIS;

ANIMALS; BARTTER SYNDROME; CHROMOSOMES, HUMAN, PAIR 1; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION PROFILING; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HUMANS; IN SITU HYBRIDIZATION; KIDNEY; KIDNEY FAILURE; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRENATAL DIAGNOSIS; RNA, MESSENGER;

EID: 0035189356     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng752     Document Type: Article

References (30)

1. Bartter and related syndromes: The puzzle is almost solved
2. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
3. + channel, ROMK
4. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity
5. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
6. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
7. Novel molecular variants in the gene for the basolateral chloride channel CLCNKB as a cause of classic Bartter syndrome
8. Molecular genetics of human blood pressure variation
9. Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p
10. Antenatal Bartter syndrome with sensorineural deafness: Refinement of the locus on chromosome 1p31
11. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
12. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
13. A physical map of the human genome
14. The sequence of the human genome
15. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
16. Cloning, embryonic expression, and alternative splicing of a murine kidney-specific Na-K-Cl cotransporter
17. Apical localization of the Na-K-Cl cotransporter, rBSC1, on rat thick ascending limbs
18. Localization of rat CLC-K2 chloride channel mRNA in the kidney
19. Intrarenal and cellular localization of clc-k2 protein in the mouse kidney
20. A genetic approach to understanding auditory function
21. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
22. IsK and KvLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
23. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
24. Genes responsible for human hereditary deafness: Symphony of a thousand
25. Impaired response to furosemide in hyperprostaglandin E syndrome: Evidence for a tubular defect in the loop of Henle
26. Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter
27. KCNQ1/KCNE 1 potassium channels in mammalian vestibular dark cells
28. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
29. Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13
30. sFRP-2 is a target of the Wnt-4 signaling pathway in the developing metanephric kidney