Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness

scientific article published on 17 December 2014

Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1080/07391102.2014.999704
P698PubMed publication ID25517796

P2093author name stringPasupuleti Santhosh Kumar
V Siva Kumar
A Sridhar
Lokanathan Srikanth
Manne Mudhu Sunitha
Sthanikam Yeswanth
Uppu Venkateswara Prasad
Vimjam Swarupa
P V G K Sarma
Katari Venkatesh
Gopal Sowjenya
P Sri Ram Naveen
P2860cites workFamilial autosomal recessive renal tubular acidosis: importance of early diagnosis.Q54353488
Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.Q54652859
Secretory-Defect Distal Renal Tubular Acidosis Is Associated with Transporter Defect in H+-ATPase and Anion Exchanger-1Q58008974
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessQ22008703
The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis toolsQ24248165
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossQ24315649
The Protein Data BankQ24515306
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34Q24534382
Gapped BLAST and PSI-BLAST: a new generation of protein database search programsQ24545170
PDBsum: summaries and analyses of PDB structuresQ24608528
PROCHECK: a program to check the stereochemical quality of protein structuresQ26778411
Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiencyQ28365644
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studiesQ34068233
Hereditary distal renal tubular acidosis: new understandingsQ34132029
PyMod: sequence similarity searches, multiple sequence-structure alignments, and homology modeling within PyMOLQ34248001
Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinomaQ34392028
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genesQ34477945
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosisQ35441615
Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells.Q38985667
Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafnessQ42322736
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosisQ44452913
Novel frame shift mutations ('A' deletion) observed in exon 9 of Wilms' tumor (WT1) gene in a patient reported with glomerulosclerosisQ48002615
An evaluation of automated homology modelling methods at low target template sequence similarityQ48400519
Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five childrenQ50459655
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.Q50465798
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child.Q50485261
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.Q52585950
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectdeafnessQ12133
distal renal tubular acidosisQ2896802
renal tubular acidosisQ1516211
P304page(s)2094-2103
P577publication date2014-12-17
P1433published inJournal of Biomolecular Structure and DynamicsQ15754747
P1476titleMutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness
P478volume33

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cites work (P2860)
Q60044371Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report
Q64263411Novel mutations in the kinase domain of BCR-ABL gene causing imatinib resistance in chronic myeloid leukemia patients

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