scholarly journals Correction: Corrigendum: Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

1994 ◽  
Vol 7 (4) ◽  
pp. 551-551 ◽  
Keyword(s):  
Missense Mutation ◽  
Night Blindness ◽  
Autosomal Dominant ◽  
Β Subunit ◽  
Subunit Gene ◽  
Cgmp Phosphodiesterase ◽  
Heterozygous Missense Mutation

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

1994 ◽  
Vol 7 (1) ◽  
pp. 64-68 ◽  
Author(s):  
Andreas Gal ◽  
Ulrike Orth ◽  
Wolfgang Baehr ◽  
Eberhard Schwinger ◽  
Thomas Rosenberg
Keyword(s):  
Missense Mutation ◽  
Night Blindness ◽  
Autosomal Dominant ◽  
Β Subunit ◽  
Subunit Gene ◽  
Cgmp Phosphodiesterase ◽  
Heterozygous Missense Mutation

scholarly journals Nrl and Sp Nuclear Proteins Mediate Transcription of Rod-specific cGMP-phosphodiesterase β-Subunit Gene

2001 ◽  
Vol 276 (37) ◽  
pp. 34999-35007 ◽  
Author(s):  
Leonid E. Lerner ◽  
Yekaterina E. Gribanova ◽  
Ming Ji ◽  
Barry E. Knox ◽  
Debora B. Farber
Keyword(s):  
Nuclear Proteins ◽  
Β Subunit ◽  
Subunit Gene ◽  
Cgmp Phosphodiesterase

The cGMP-Phosphodiesterase β-Subunit Gene

2001 ◽  
pp. 255-267
Author(s):  
Debora B. Farber ◽  
Leonid E. Lerner ◽  
Yekaterina E. Gribanova ◽  
Mark R. Verardo ◽  
Natik I. Piriev ◽  
...  
Keyword(s):  
Β Subunit ◽  
Subunit Gene ◽  
Cgmp Phosphodiesterase

scholarly journals A CADASIL-Like Case with a Novel Noncysteine Mutation of theNOTCH3Gene and Granular Deposits in the Renal Arterioles

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Kuniyuki Nakamura ◽  
Tetsuro Ago ◽  
Akihiro Tsuchimoto ◽  
Nozomi Noda ◽  
Asako Nakamura ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
White Matter ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
White Matter Lesions ◽  
Cerebral Lesions ◽  
Progressive Renal Failure ◽  
Heterozygous Missense Mutation ◽  
The Brain

We herein report the finding of a 62-year-old male, who developed dysarthria and dysphagia, with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy- (CADASIL-) like cerebral lesions. He also suffered from slowly progressive renal failure with the findings of granular deposits similar to electron-dense granular osmiophilic material in the renal arterioles. We found a novel heterozygous missense mutation of theNOTCH3gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. The noncysteine substitution may underlie the pathogenesis of white matter lesions in the brain and of the chronic renal failure in the present case.

scholarly journals Regulatory Sequences in the 3′ Untranslated Region of the Human cGMP-Phosphodiesterase β-Subunit Gene

2009 ◽  
Vol 50 (6) ◽  
pp. 2591 ◽  
Author(s):  
Mark R. Verardo ◽  
Andrea Viczian ◽  
Natik Piri ◽  
Novrouz B. Akhmedov ◽  
Barry E. Knox ◽  
...  
Keyword(s):  
Untranslated Region ◽  
Regulatory Sequences ◽  
Β Subunit ◽  
Subunit Gene ◽  
Cgmp Phosphodiesterase

scholarly journals Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report

2021 ◽  
Vol 9 (33) ◽  
pp. 10249-10256
Author(s):  
Li-Ling Zhang ◽  
Jia-Ru Lin ◽  
Ting-Ting Zhu ◽  
Qi Liu ◽  
Dong-Mei Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Heterozygous Missense Mutation
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