Literature DB >> 10545938

Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.

T Igarashi, J Inatomi, T Sekine, S H Cha, Y Kanai, M Kunimi, K Tsukamoto, H Satoh, M Shimadzu, F Tozawa, T Mori, M Shiobara, G Seki, H Endou.   

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Year:  1999        PMID： 10545938     DOI： 10.1038/15440

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  99 in total

Review 1.  The renal tubular acidoses.

Authors:  R J Unwin; G Capasso
Journal:  J R Soc Med       Date:  2001-05       Impact factor: 5.344

Review 2.  Molecular mechanism of pancreatic and salivary gland fluid and HCO3 secretion.

Authors:  Min Goo Lee; Ehud Ohana; Hyun Woo Park; Dongki Yang; Shmuel Muallem
Journal:  Physiol Rev       Date:  2012-01       Impact factor: 37.312

3.  SNPs of metabolism, not stones.

Authors:  Michael F Romero
Journal:  Am J Physiol Renal Physiol       Date:  2010-08-04

4.  NBCe1 expression is required for normal renal ammonia metabolism.

Authors:  Mary E Handlogten; Gunars Osis; Hyun-Wook Lee; Michael F Romero; Jill W Verlander; I David Weiner
Journal:  Am J Physiol Renal Physiol       Date:  2015-07-29

5.  IRBIT, an inositol 1,4,5-trisphosphate receptor-binding protein, specifically binds to and activates pancreas-type Na+/HCO3- cotransporter 1 (pNBC1).

Authors:  Kyoko Shirakabe; Giuseppina Priori; Hideomi Yamada; Hideaki Ando; Shoko Horita; Toshiro Fujita; Ichiro Fujimoto; Akihiro Mizutani; George Seki; Katsuhiko Mikoshiba
Journal:  Proc Natl Acad Sci U S A       Date:  2006-06-12       Impact factor: 11.205

6.  The electrogenicity of the rat sodium-bicarbonate cotransporter NBCe1 requires interactions among transmembrane segments of the transporter.

Authors:  Inyeong Choi; Han Soo Yang; Walter F Boron
Journal:  J Physiol       Date:  2006-10-12       Impact factor: 5.182

7.  Substrate specificity of the electrogenic sodium/bicarbonate cotransporter NBCe1-A (SLC4A4, variant A) from humans and rabbits.

Authors:  Seong-Ki Lee; Walter F Boron; Mark D Parker
Journal:  Am J Physiol Renal Physiol       Date:  2013-01-16

8.  Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis.

Authors:  Jun Inatomi; Shoko Horita; Nancy Braverman; Takashi Sekine; Hideomi Yamada; Yoshiro Suzuki; Katsumasa Kawahara; Nobuo Moriyama; Akihiko Kudo; Hayato Kawakami; Mitsunobu Shimadzu; Hitoshi Endou; Toshiro Fujita; George Seki; Takashi Igarashi
Journal:  Pflugers Arch       Date:  2004-04-14       Impact factor: 3.657

9.  Sequence- or position-specific mutations in the carboxyl-terminal FL motif of the kidney sodium bicarbonate cotransporter (NBC1) disrupt its basolateral targeting and alpha-helical structure.

Authors:  Hong C Li; Joel H Collier; Ali Shawki; Jai S Rudra; Emily Y Li; Bryan Mackenzie; Manoocher Soleimani
Journal:  J Membr Biol       Date:  2009-03-18       Impact factor: 1.843

Review 10.  Regulation of pH During Amelogenesis.

Authors:  Rodrigo S Lacruz; Antonio Nanci; Ira Kurtz; J Timothy Wright; Michael L Paine
Journal:  Calcif Tissue Int       Date:  2009-12-17       Impact factor: 4.333
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