Results 81 to 90 of about 256,046 (232)
Blood Cells, Molecules, and Diseases, 2001 Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. So far, more than 170 different mutations responsible for AIP have been identified worldwide in the HMBS gene.
Franco Martinez di Montemuros +7 more
openalex +6 more sources
Hemotórax espontáneo: una forma inusual de presentación de la porfiria intermitente aguda
Biomédica: revista del Instituto Nacional de Salud, 2009 Las porfirias son un grupo de alteraciones metabólicas de la síntesis del hem, de carácter hereditario. Son condiciones relativamente raras, de difícil diagnóstico, pero con una respuesta impresionante al tratamiento y con buen pronóstico, si se ...
Juliana Buitrago, Sandra Viviana Santa
doaj +1 more source
BMC Plant Biology, 2022 Background Primulina pungentisepala is suitable for use as a potted plant because of its beautiful leaf variegation, which is significantly different in its selfed offspring. However, the mechanism of P. pungentisepala leaf variegation is unclear.
Jiancun Chen +6 more
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Quantitative analysis of gene expression changes in response to genotoxic compounds [PDF]
, 2017 Techniques that quantify molecular endpoints sufficiently sensitive to identify and classify potentially toxic compounds have wide potential for high-throughput in vitro screening.
El-Hiti, Gamal A. +5 more
core +1 more source
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators [PDF]
, 2021 Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem biosynthesis pathway.
Aarsand, Aasne Karine +7 more
core +1 more source
Italian Journal of Animal Science, 2018 The aim of this study was designed to select housekeeping genes for quantitative gene expression analysis in yellow-feathered broilers. Twelve 3-week-old chickens were randomly selected from 60 yellow-feathered broilers.
Jie Zhang +5 more
doaj +1 more source
Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy–Associated Cardiomyopathy
Acta Physiologica, Volume 241, Issue 12, December 2025.ABSTRACT Aim Duchenne muscular dystrophy (DMD), a rare X‐linked genetic disorder, is affecting skeletal and cardiac muscles due to the loss of the dystrophin protein. Modifier proteins, whose expression is altered in DMD patients, may influence disease progression.
Brice‐Emmanuel Guennec +12 more
wiley +1 more source
Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)
Brain DisordersWe report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C.
Julien Lerusse +2 more
doaj +1 more source
Acute intermittent porphyria: a test of clinical acumen
Journal of Community Hospital Internal Medicine Perspectives, 2017 Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital +3 more
doaj +1 more source
Die Funktion des Responseregulators ARR2 in der Entwicklung von Arabidopsis thaliana [PDF]
, 2004 In dieser Arbeit konnte mittels physiologischer Experimente, Expressionsanalysen, Phosphorylierungsassays und Transaktivierungsanalysen eine komplexe Funktion von ARR2 in verschiedenen Signaltransduktionswegen von Arabidopsis aufgedeckt werden.
Haß, Claudia
core