Results 61 to 70 of about 2,693,578 (146)

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia

Frontiers in Genetics
ObjectiveTo accurately verify the pathogenicity of variants of uncertain significance (VUS) in MUT and MMACHC genes through mass spectrometry and silico analysis.MethodsThis multicenter retrospective study included 35 participating units (ClinicalTrials ...
Dongfan Xiao, Dongfan Xiao, Dongfan Xiao, Congcong Shi, Congcong Shi, Congcong Shi, Yinchun Zhang, Yinchun Zhang, Sitao Li, Sitao Li, Sitao Li, Yuhao Ye, Guilong Yuan, Taohan Miu, Haiyan Ma, Shiguang Diao, Chaoyun Su, Zhitao Li, Haiyan Li, Guiying Zhuang, Yuanli Wang, Feiyan Lu, Xia Gu, Xia Gu, Xia Gu, Wei Zhou, Xin Xiao, Xin Xiao, Xin Xiao, Weiben Huang, Tao Wei, Hu Hao, Hu Hao, Hu Hao   +33 more
doaj   +1 more source

Additional file 4 of Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability

Additional file 4: Figure S2. Experimental design to generate MMUT homozygous variant lambs.
Ben Braiek, Maxime, Moreno-Romieux, Carole, André, Céline, Astruc, Jean-Michel, Bardou, Philippe, Bordes, Arnaud, Debat, Frédéric, Fidelle, Francis, Granado-Tajada, Itsasne, Hozé, Chris, Plisson-Petit, Florence, Rivemale, François, Sarry, Julien, Tadi, Némuel, Woloszyn, Florent, Fabre, Stéphane   +15 more
openaire   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses, Apolline Imbard, Clément Pontoizeau, Anaïs Brassier, Jean‐Baptiste Arnoux, Juliette Bouchereau, Claire‐Marine Bérat, Murielle Assoun, Claire Belloche, Sabine Dewulf, Sandrine Dubois, Bénédicte Samba, Aude Servais, Myriam Dao, Edouard Le Guillou, Amélie de Colnet, Chris Ottolenghi, Pascale de Lonlay, Jean‐François Benoist, Manuel Schiff   +19 more
wiley   +1 more source

Methodology for generating diverse geotechnical datasets using Monte Carlo simulation and genetic algorithms

Computer-Aided Civil and Infrastructure Engineering, Volume 40, Issue 29, Page 5494-5511, 9 December 2025.
Abstract The reliability of machine learning heavily depends on training data; however, in the field of geotechnical engineering, it is challenging to obtain diverse datasets due to economic and accessibility limitations. The aim of this study is to propose a method for generating data for use in the training phase of machine learning by combining ...
Junghee Park, Hyung‐Koo Yoon
wiley   +1 more source

Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases

Вопросы современной педиатрии
Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders.
Olga V. Bugun, Galina P. Bogonosova, Tatyana A. Astakhova, Tatyana A. Bairova, Natalya N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Yuliya S. Livadarova, Nanalya I. Sysoeva   +8 more
doaj   +1 more source

Additional file 6 of Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability

Additional file 6: Figure S3. Manhattan plot of 20-SNP haplotypes in Manech Tête Rousse dairy sheep. Each point represents a haplotype of 20 markers with a frequency higher than 1% in the maternal phase. The red line represents the P-value threshold (1.9 × 10−4), which was used to identify haplotypes with a significant deficit in homozygotes.
Ben Braiek, Maxime, Moreno-Romieux, Carole, André, Céline, Astruc, Jean-Michel, Bardou, Philippe, Bordes, Arnaud, Debat, Frédéric, Fidelle, Francis, Granado-Tajada, Itsasne, Hozé, Chris, Plisson-Petit, Florence, Rivemale, François, Sarry, Julien, Tadi, Némuel, Woloszyn, Florent, Fabre, Stéphane   +15 more
openaire   +1 more source

Admixture Mapping Reveals Evidence for Multiple Mitonuclear Incompatibilities in Swordtail Fish Hybrids

Molecular Ecology, Volume 34, Issue 22, November 2025.
ABSTRACT How barriers to gene flow arise between closely related species is one of the oldest questions in evolutionary biology. Classic models in evolutionary biology predict that negative epistatic interactions between variants in the genomes of diverged lineages, known as hybrid incompatibilities, will reduce viability or fertility in hybrids.
Nemo V. Robles, Benjamin M. Moran, María José Rodríguez Barrera, Gaston I. Jofre, Theresa Gunn, Erik N. K. Iverson, Sofia Beskid, John J. Baczenas, Alisa Sedghifar, Peter Andolfatto, Daniel L. Powell, Yaniv Brandvain, Justin C. Havird, Gil G. Rosenthal, Molly Schumer   +14 more
wiley   +1 more source

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China

Human Genomics
Background Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type).
Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Yu Wang, Ting Chen, Feng Xu, Xuefan Gu, Lianshu Han   +18 more
doaj   +1 more source

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria. [PDF]

Commun Biol
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly
Denley MCS, Straub MS, Marcionelli G, Güra MA, Penton D, Delvendahl I, Poms M, Vekeriotaite B, Cherkaoui S, Conte F, von Meyenn F, Froese DS, Baumgartner MR.   +12 more
europepmc   +2 more sources

Additional file 1 of Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability

Additional file 1: Figure S1. Distribution of genotyped animals over time. The bar charts represent the number of genotyped animals according to sex and year of birth. The genomic selection in MTR dairy sheep was implemented in 2017.
Ben Braiek, Maxime, Moreno-Romieux, Carole, André, Céline, Astruc, Jean-Michel, Bardou, Philippe, Bordes, Arnaud, Debat, Frédéric, Fidelle, Francis, Granado-Tajada, Itsasne, Hozé, Chris, Plisson-Petit, Florence, Rivemale, François, Sarry, Julien, Tadi, Némuel, Woloszyn, Florent, Fabre, Stéphane   +15 more
openaire   +1 more source