Literature DB >> 25572248

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.

Majdi Nagara1, Konstantinos Voskarides, Sahar Elouej, Apostolos Zaravinos, Zied Riahi, Gregory Papagregoriou, Rym Kefi, Khadija Boussetta, Constantinos Deltas, Sonia Abdelhak, Faten Tinsa.   

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Year:  2014        PMID： 25572248     DOI： 10.1007/s12041-014-0450-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  18 in total

1.  Improved splice site detection in Genie.

Authors:  M G Reese; F H Eeckman; D Kulp; D Haussler
Journal:  J Comput Biol       Date:  1997       Impact factor: 1.479

2.  Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Authors:  E H Stover; K J Borthwick; C Bavalia; N Eady; D M Fritz; N Rungroj; A B S Giersch; C C Morton; P R Axon; I Akil; E A Al-Sabban; D M Baguley; S Bianca; A Bakkaloglu; Z Bircan; D Chauveau; M-J Clermont; A Guala; S A Hulton; H Kroes; G Li Volti; S Mir; H Mocan; A Nayir; S Ozen; J Rodriguez Soriano; S A Sanjad; V Tasic; C M Taylor; R Topaloglu; A N Smith; F E Karet
Journal:  J Med Genet       Date:  2002-11       Impact factor: 6.318

Review 3.  Familial renal tubular acidosis.

Authors:  Seth L Alper
Journal:  J Nephrol       Date:  2010 Nov-Dec       Impact factor: 3.902

4.  Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Authors:  A N Smith; J Skaug; K A Choate; A Nayir; A Bakkaloglu; S Ozen; S A Hulton; S A Sanjad; E A Al-Sabban; R P Lifton; S W Scherer; F E Karet
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

5.  Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

Authors:  Avraam Elia; Konstantinos Voskarides; Panayiota Demosthenous; Aikaterini Michalopoulou; Maria-Adamantia Malliarou; Eleni Georgaki; Yiannis Athanasiou; Charalambos Patsias; Alkis Pierides; Constantinos Deltas
Journal:  Nephron Clin Pract       Date:  2010-08-30

6.  Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

Authors:  Rosa Vargas-Poussou; Pascal Houillier; Nelly Le Pottier; Laurence Strompf; Chantal Loirat; Véronique Baudouin; Marie-Alice Macher; Michèle Déchaux; Tim Ulinski; François Nobili; Philippe Eckart; Robert Novo; Mathilde Cailliez; Rémi Salomon; Hubert Nivet; Pierre Cochat; Ivan Tack; Anne Fargeot; François Bouissou; Gwenaelle Roussey Kesler; Stéphanie Lorotte; Nathalie Godefroid; Valérie Layet; Gilles Morin; Xavier Jeunemaître; Anne Blanchard
Journal:  J Am Soc Nephrol       Date:  2006-04-12       Impact factor: 10.121

7.  Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Authors:  Elena Andreucci; Benedetta Bianchi; Ilaria Carboni; Giancarlo Lavoratti; Marzia Mortilla; Claudio Fonda; Minna Bigozzi; Maurizio Genuardi; Sabrina Giglio; Ivana Pela
Journal:  Pediatr Nephrol       Date:  2009-07-29       Impact factor: 3.714

8.  Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

Authors:  Gene Yeo; Christopher B Burge
Journal:  J Comput Biol       Date:  2004       Impact factor: 1.479

Review 9.  Genetic causes and mechanisms of distal renal tubular acidosis.

Authors:  Daniel Batlle; Syed K Haque
Journal:  Nephrol Dial Transplant       Date:  2012-10       Impact factor: 5.992

10.  Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

Authors:  F E Karet; K E Finberg; R D Nelson; A Nayir; H Mocan; S A Sanjad; J Rodriguez-Soriano; F Santos; C W Cremers; A Di Pietro; B I Hoffbrand; J Winiarski; A Bakkaloglu; S Ozen; R Dusunsel; P Goodyer; S A Hulton; D K Wu; A B Skvorak; C C Morton; M J Cunningham; V Jha; R P Lifton
Journal:  Nat Genet       Date:  1999-01       Impact factor: 38.330
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