Results 111 to 120 of about 164,160 (174)

FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction

Human Genomics
Systematically predicting the effects of mutations on protein fitness is essential for the understanding of genetic diseases. Indeed, predictions complement experimental efforts in analyzing how variants lead to dysfunctional proteins that in turn can ...
Matsvei Tsishyn, Gabriel Cia, Pauline Hermans, Jean Kwasigroch, Marianne Rooman, Fabrizio Pucci   +5 more
doaj   +1 more source

Regulation of microsomal prostaglandin E2 synthase by cyclopentenone prostaglandins in colon cancer cells [PDF]

, 2006
Prostaglandin E2 is the major prostaglandin involved in colorectal carcinogenesis. The biosynthesis of prostaglandin E2 is accomplished by several terminal prostaglandin E synthases through catalytical conversion of the cyclooxygenase product ...
Yudina, Yulyana
core  

Acute intermittent porphyria in a resource-limited setting: diagnostic pitfalls and emerging therapeutic perspectives

Journal of Rare Diseases
Background Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by deficiency of hydroxymethylbilane synthase (HMBS), leading to accumulation of neurotoxic heme precursors. Its protean neurovisceral manifestations and the possibility of
Bhupender Arya, Pyrus Bhellum, Rajat Goyal, Avishek Sarangal, Gopal Krishana Bohra   +4 more
doaj   +1 more source

Hydroxymethylbilan synthase [PDF]

, 2019
openaire   +1 more source

A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. [PDF]

Medicine (Baltimore), 2018
Ren Y, Xu LX, Liu YF, Xiang CY, Gao F, Wang Y, Bai T, Yin JH, Zhao YL, Yang J.   +9 more
europepmc   +1 more source

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. [PDF]

Hum Mol Genet, 2019
Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ.   +10 more
europepmc   +1 more source

A Four-Year Diagnostic Journey to Acute Intermittent Porphyria in a 19-Year-Old Woman: Lessons on Recognizing Neurovisceral Clues. [PDF]

Cureus
Rezwan D, Dhinakharan SR.
europepmc   +1 more source

Patient-centered and coordinated therapy with RNA interference-based givosiran for acute hepatic porphyria: real-life experience for an ultra-rare disease from Romania. [PDF]

Blood Sci
Bancos A, Jitaru C, Uhl A, Roibu D, Santa M, Nistor M, Ivancuta A, Moldovan CS, Dima D, Puiu M, Tomuleasa C.   +10 more
europepmc   +1 more source

Oxidation of Uroporphyrinogens During Heme Synthesis: Role of Iron, Susceptibility and Consequences. [PDF]

Biomolecules
Smith AG.
europepmc   +1 more source

Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report. [PDF]

J Med Case Rep
Sharma A, Chawla Y, Atam V, Srivastava S.   +3 more
europepmc   +1 more source