Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12184
Abstract: Certain loss‐of‐function mutations in the gene encoding the lysine catabolic enzyme aldehyde dehydrogenase 7A1 (ALDH7A1) cause pyridoxine‐dependent epilepsy (PDE). Missense mutations of Glu427, especially Glu427Gln, account for ~30% of the mutated alleles in PDE patients,… read more here.
Keywords: pathogenic mutations; aldh7a1; dependent epilepsy; mutations targeting ... See more keywords
Pathogenic mutations in two Chinese patients exhibiting severe early-onset obesity
Sign Up to like & getrecommendations! Published in 2019 at "Science China Life Sciences"
DOI: 10.1007/s11427-018-9443-0
Abstract: McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100005, China; Capital Institute of Pediatrics, Beijing 100020, China; Department of… read more here.
Keywords: medicine; pathogenic mutations; mutations two; two chinese ... See more keywords
Inference of Multisite Phosphorylation Rate Constants and Their Modulation by Pathogenic Mutations
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DOI: 10.1016/j.cub.2019.12.052
Abstract: Multisite protein phosphorylation plays a critical role in cell regulation [1-3]. It is widely appreciated that the functional capabilities of multisite phosphorylation depend on the order and kinetics of phosphorylation steps, but kinetic aspects of… read more here.
Keywords: pathogenic mutations; multisite phosphorylation; inference multisite; phosphorylation rate ... See more keywords
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-75919-4
Abstract: While homozygous pathogenic mutations in the NPC1 gene cause Niemann-Pick type C1 disease, heterozygous mutations cause highly-penetrant obesity. We aimed to investigate the prevalence of NPC1 mutations and their signatures of natural selection in 122,678… read more here.
Keywords: pathogenic mutations; selection; obesity; signatures natural ... See more keywords
Warning: not all carriers of pathogenic mutations in desmosomal genes should follow the same medical advices !
Sign Up to like & getrecommendations! Published in 2020 at "Cardiovascular research"
DOI: 10.1093/cvr/cvaa049
Abstract: This work was supported by the Ricerca Corrente Funding Scheme of the Italian Ministry of Health (to S.G.P.). The Italian Ministry of Research and University Dipartimenti di Eccellenza 2018–2022 grant to the Molecular Medicine Department… read more here.
Keywords: pathogenic mutations; carriers pathogenic; genes follow; warning carriers ... See more keywords
Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy
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DOI: 10.1126/scitranslmed.ade1633
Abstract: Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS-rich) domain, which mediates nuclear localization. These mutations induce RBM20 mis-localization… read more here.
Keywords: localization; pathogenic mutations; mice; efficiency ... See more keywords
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families
Sign Up to like & getrecommendations! Published in 2022 at "BioMed Research International"
DOI: 10.1155/2022/3769948
Abstract: Microcephaly (MCPH) is a developmental anomaly of the brain known by reduced cerebral cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a genetically and clinically heterogenous disorder. Twenty-five genes (involved in spindle… read more here.
Keywords: microcephaly mcph; cenpj cask; identification pathogenic; primary microcephaly ... See more keywords
Clinical challenges in interpreting multiple pathogenic mutations in single patients
Sign Up to like & getrecommendations! Published in 2021 at "Hereditary Cancer in Clinical Practice"
DOI: 10.1186/s13053-021-00172-3
Abstract: Background In the past two decades, genetic testing for cancer risk assessment has entered mainstream clinical practice due to the availability of low-cost panels of multiple cancer-associated genes. However, the clinical value of multiple-gene panels… read more here.
Keywords: pathogenic mutations; clinical practice; cancer; multiple pathogenic ... See more keywords
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients
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DOI: 10.3324/haematol.2018.207241
Abstract: Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It results from mutations in one of the 22 known FANC genes. The number… read more here.
Keywords: pathogenic mutations; 117 japanese; anemia; fanconi anemia ... See more keywords
Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer
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DOI: 10.3389/fonc.2019.00673
Abstract: Background: Colorectal cancer (CRC) incidence is rising worldwide, as well as in the Republic of Kazakhstan, while its occurrence is also increasing in the younger population. Hereditary forms associated with the development of colon and… read more here.
Keywords: pathogenic mutations; early onset; colorectal cancer; spectrum ... See more keywords
Concomitant Pathogenic Mutations and Fusions of Driver Oncogenes in Tumors
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DOI: 10.3389/fonc.2020.544579
Abstract: Driver oncogene alterations have always been one of leading causes in the process of occurrence and development of tumors. And the effects of driver oncogene alterations on tumorigenesis and progression in different kinds of tumors… read more here.
Keywords: driver oncogenes; pathogenic mutations; fusions driver; oncogenes tumors ... See more keywords