Results 1 to 10 of about 392,471 (120)
Familial Hypercholesterolemia: From Clinical Suspicion to Novel Treatments
Reviews in Cardiovascular Medicine, 2023 Familial hypercholesterolemia (FH) is the most common monogenic disorder in humans. It affects millions of people globally, increasing the risk of developing cardiovascular disease (CVD) at a younger age due to elevated levels of low-density lipoprotein ...
Saeid Mirzai +3 more
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Journal of Applied Hematology, 2022 BACKGROUND: Anemia is one of the most common conditions in women during pregnancy. Fetal hemoglobin (HbF) levels are usually 3.2%) and normal HbA2 level (≤3.2%) to detect mutation at b-globin gene cluster. Allelic discrimination for rs1186868, rs9376090,
Yousef Saeed Mohammad Abu Za'ror +4 more
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A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
Brain Sciences, 2023 POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders.
Vito Luigi Colona +7 more
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Frontiers in Genetics, 2023 Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive disorder characterized by baldness, recurrent ischemic stroke, lumbago, headache, and dementia which is closely ...
Yu-Ming Li +7 more
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Frontiers in Plant Science, 2022 During natural evolution and artificial selection, the fruit color of many species has been repeatedly gained or lost and is generally associated with mutations in genes encoding R2R3-MYB transcription factors, especially MYB10.
Huazhao Yuan +5 more
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Haploinsufficiency of Dspp Gene Causes Dentin Dysplasia Type II in Mice
Frontiers in Physiology, 2020 Dentin dysplasia (DD) and dentinogenesis imperfecta (DGI) patients have abnormal structure, morphology, and function of dentin. DD-II, DGI-II, and DGI-III are caused by heterozygous mutations in the dentin sialophosphoprotein (DSPP) gene in humans ...
Ce Shi +17 more
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Evaluation of biofilm formation in the homozygous and heterozygous strains of vaginal Candida albicans isolates [PDF]
Current Medical Mycology, 2019 Background and Purpose: Candida albicans is one of the most opportunistic yeasts around the world. This species has two heterozygous and homozygous strains at hyphal wall protein 1 (hwp1) gene locus.
Keyvan Pakshir +4 more
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Somatic mutations during rapid clonal domestication of Populus alba var. pyramidalis
Evolutionary Applications, 2022 For many clonally propagated species, the accumulation of somatic mutations is the principal driver of declines in yield and quality. However, somatic mutations may also promote genetic diversification.
Zeyu Zheng +11 more
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Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
Frontiers in Oncology, 2023 Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation.
Haider Nisar +5 more
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Clinical, MRI, and Genetic Findings in Batten Disease
Pediatric Neurology Briefs, 1998 The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
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