Results 81 to 90 of about 1,703,111 (346)

Mutational spectrum and genotype-phenotype relationships in a cohort of Romanian hereditary angioedema patients caused by C1 inhibitor deficiency

Romanian Journal of Laboratory Medicine, 2019
Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) caused by SERPING1 mutations is a rare monogenic disorder characterized by a high frequency of de novo mutations, allelic heterogeneity and populational differences.
Gábos Gabriella, Moldovan Dumitru, Dobru Daniela, Mihály Enikő, Bara Noémi, Nădășan Valentin, Hutanu Adina, Csép Katalin   +7 more
doaj   +1 more source

Clinical, muscle pathology and molecular biological features of late ⁃ onset glycogen storage disease typeⅡ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical, muscle pathology and molecular biological features of late⁃onset glycogen storage disease type Ⅱ (GSDⅡ). Methods and Results Five patients with late⁃onset GSD Ⅱ diagnosed and treated in The Fifth Affiliated Hospital ...
WU Shi⁃tao, LIU Fang , SHI Wei⁃wei , ZHANG Min, LIU Heng⁃fang   +4 more
doaj   +1 more source

Performance of mutation pathogenicity prediction methods on missense variants

Human Mutation, 2011
Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in humans. The number of SNPs identified in the human genome is growing rapidly, but attaining experimental knowledge about the possible disease association of variants ...
J. Thusberg, Ayodeji Olatubosun, M. Vihinen   +2 more
semanticscholar   +1 more source

Missense mutations of human homeoboxes: A review [PDF]

Human Mutation, 2001
The homeodomain (encoded by the homeobox) is the DNA-binding domain of a large variety of transcriptional regulators involved in controlling cell fate decisions and development. Mutations of homeobox-containing genes cause several diseases in humans. A variety of missense mutations giving rise to human diseases have been described.
D'Elia AV, TELL, Gianluca, Paron I, Pellizzari L, LONIGRO, Incoronata, DAMANTE, Giuseppe   +5 more
openaire   +3 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly

Journal of Biochemical and Clinical Genetics, 2023
Background: The term "Syndactyly" referred to an inherited deformity of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached and mostly inherited in an autosomal dominant manner.
Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair   +5 more
doaj   +1 more source

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]

, 2019
Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D, Kaur, Pushpinder, Lang, Julie E, Porras, Tania B, Ring, Alexander   +4 more
core   +3 more sources

Classification of Missense Mutations of Disease Genes [PDF]

Journal of the American Statistical Association, 2005
Clinical management of individuals found to harbor a mutation at a known disease-susceptibility gene depends on accurate assessment of mutation-specific disease risk. For missense mutations (MMs)-mutations that lead to a single amino acid change in the protein coded by the gene-this poses a particularly challenging problem.
Xi Zhou, Edwin S. Iversen, Giovanni Parmigiani   +2 more
openaire   +3 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Investigation of the SH3BP2 Gene Mutation in Cherubism [PDF]

, 2008
Cherubism is a rare developmental lesion of the jaw that is generally inherited as an autosomal dominant trait. Recent studies have revealed point mutations in the SH3BP2 gene in cherubism patients.
Ahn, Sang-Gun, Jung, Yang-Seok, Kim, Soo-A, Lee, Ji-Young, Lee, Sang-Ho, Yoon, Jung-Hoon   +5 more
core   +1 more source