Results 131 to 140 of about 2,525,333 (167)
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Human Genetics, 2000
Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by mutations in the HMBS gene. The gene is transcribed from two promoters to produce ubiquitous and erythroid isoforms of porphobilinogen deaminase, which differ only at their NH2 ends.
George H Elder, G H Elder, S D Whatley
exaly +3 more sources
Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by mutations in the HMBS gene. The gene is transcribed from two promoters to produce ubiquitous and erythroid isoforms of porphobilinogen deaminase, which differ only at their NH2 ends.
George H Elder, G H Elder, S D Whatley
exaly +3 more sources
Human Genetics, 1999
Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the method of choice for the accurate identification of asymptomatic affected individuals within AIP families so that they can be advised to avoid drugs and ...
G H Elder, S D Whatley
exaly +3 more sources
Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the method of choice for the accurate identification of asymptomatic affected individuals within AIP families so that they can be advised to avoid drugs and ...
G H Elder, S D Whatley
exaly +3 more sources
Blood Cells, Molecules, and Diseases, 2012 Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by molecular abnormalities in the HMBS gene. This gene is transcribed from two promoters to produce ubiquitous and erythroid specific isoforms of porphobilinogen deaminase (PBGD).
V. Brancaleoni +5 more
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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation [PDF]
American Journal of Human Genetics, 2023 Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and most clinically ...
Laurent Gouya
exaly +3 more sources
Acute intermittent porphyria: identification of novel variant in the HMBS gene
Arquivos de Neuro-PsiquiatriaCase presentation: A 19-year-old woman has made multiple visits to the emergency room this year due to recurring abdominal pain. In April 2024, she was admitted to another hospital due to ascending areflex flaccid paralysis, where she was initially diagnosed and treated for Guillain-Barré syndrome (GBS).
Camila Rodrigues Nepomuceno +9 more
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Experimental Eye Research, 1992
As a first step towards identifying genes expressed specifically in the retinal pigment epithelium (RPE), we generated a bovine RPE cDNA library. In preliminary characterization of this library, we isolated a clone, RPE1, that was identified as the bovine homologue of a human cDNA thought to encode the HMB-50 melanoma antigen.
R Y, Kim, G J, Wistow
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As a first step towards identifying genes expressed specifically in the retinal pigment epithelium (RPE), we generated a bovine RPE cDNA library. In preliminary characterization of this library, we isolated a clone, RPE1, that was identified as the bovine homologue of a human cDNA thought to encode the HMB-50 melanoma antigen.
R Y, Kim, G J, Wistow
openaire +2 more sources
Clinical Genetics, 2019
AbstractAcute intermittent porphyria (AIP) is the most common and severe form of porphyrias. This is a dominant inherited disorder with low penetrance, caused by mutations in gene coding hydroxymethylbilane synthase (HMBS). We present the results of our long‐term genetic study of AIP patients and their relatives (N = 153 and 302, respectively).
Maria Goncharova +5 more
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AbstractAcute intermittent porphyria (AIP) is the most common and severe form of porphyrias. This is a dominant inherited disorder with low penetrance, caused by mutations in gene coding hydroxymethylbilane synthase (HMBS). We present the results of our long‐term genetic study of AIP patients and their relatives (N = 153 and 302, respectively).
Maria Goncharova +5 more
openaire +2 more sources
Gene, 2020
Protein turnover is a process that is regulated by several factors and can lead to muscle hypertrophy or atrophy. The purpose of the present study was to determine the effects of β-hydroxy-β-methylbutyrate free acid (HMB-FA) and eccentric resistance exercise on variables related to protein turnover in rats.
Hossein Shirvani +5 more
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Protein turnover is a process that is regulated by several factors and can lead to muscle hypertrophy or atrophy. The purpose of the present study was to determine the effects of β-hydroxy-β-methylbutyrate free acid (HMB-FA) and eccentric resistance exercise on variables related to protein turnover in rats.
Hossein Shirvani +5 more
openaire +2 more sources
Blood, 2008
Abstract Porphyrias are inherited disorders in the biosynthesis of heme. Acute intermittent porphyria (AIP), the most common form, is autosomal dominant and it is characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances.
Maria Domenica Cappellini +4 more
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Abstract Porphyrias are inherited disorders in the biosynthesis of heme. Acute intermittent porphyria (AIP), the most common form, is autosomal dominant and it is characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances.
Maria Domenica Cappellini +4 more
openaire +1 more source
Analysis of HMBS gene in Chinese patients with acute intermittent porphyria
Endocrine Abstracts, 2021Ru Li, Yi Ren, Jing Yang
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