Results 91 to 100 of about 295,934 (166)

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Frontiers in Genetics, 2018
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP.
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee   +4 more
doaj   +1 more source

The Selection of Reference Genes for Quantitative Real-Time PCR in the Ashidan Yak Mammary Gland During Lactation and Dry Period

Animals, 2019
Investigating the critical genes related to milk synthesis is essential for the improvement of the milk yield of the yak. Real-time quantitative polymerase chain reaction (RT-qPCR) is a reliable and widely used method to measure and evaluate gene ...
Xiaoyun Wu, Xuelan Zhou, Xuezhi Ding, Min Chu, Chunnian Liang, Jie Pei, Lin Xiong, Pengjia Bao, Xian Guo, Ping Yan   +9 more
doaj   +1 more source

Time-resolved structural studies of hydroxymethylbilane synthase (HMBS) [PDF]

Acta Crystallographica Section A Foundations of Crystallography, 2002
Hadener A, Nieh YP, Cassetta A, Raftery J, Niemann AC, Carr PD, Wulff M, Ursby T, Moy JP, Thompson A, Helliwell JR   +10 more
openaire   +2 more sources

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Neuropsychiatric Disease and Treatment, 2014
Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H   +3 more
doaj  

Review for "Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria"

, 2021
Olesya Pschenichnikova
semanticscholar   +2 more sources

Author response for "Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria"

, 2021
Hu Yuanxiang, Li Weihao, Kang Ninglin, M. Liyan, Teng Qing, Mo Guiling, Wu Jiahong, Wang Xinyang, Bi Renjie, Zhang Songyun   +9 more
semanticscholar   +2 more sources

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

Decision letter for "Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria"

, 2021

semanticscholar   +1 more source

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