[go: up one dir, main page]

Veugelers et al., 2004 - Google Patents

Mutation of perinatal myosin heavy chain associated with a Carney complex variant

Veugelers et al., 2004

View HTML
Document ID
5347194421543560213
Author
Veugelers M
Bressan M
McDermott D
Weremowicz S
Morton C
Mabry C
Lefaivre J
Zunamon A
Destree A
Chaudron J
Basson C
Publication year
Publication venue
New England Journal of Medicine

External Links

Snippet

Background Familial cardiac myxomas occur in the hereditary syndrome Carney complex. Although PRKAR1A mutations can cause the Carney complex, the disorder is genetically heterogeneous. To identify the cause of a Carney complex variant associated with distal …
Continue reading at www.nejm.org (HTML) (other versions)

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans

Similar Documents

Publication Publication Date Title
Veugelers et al. Mutation of perinatal myosin heavy chain associated with a Carney complex variant
Casey et al. Mutations in the protein kinase A R1α regulatory subunit cause familial cardiac myxomas and Carney complex
Miyamura et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria
Riazuddin et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p
Lafrenière et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates
Faiyaz‐Ul‐Haque et al. A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type
Shabalina et al. Expansion of the human μ-opioid receptor gene architecture: novel functional variants
Kamisago et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
Rodriguez-Mari et al. Retinoic acid metabolic genes, meiosis, and gonadal sex differentiation in zebrafish
Jakobsdottir et al. Susceptibility genes for age-related maculopathy on chromosome 10q26
Kammerer et al. Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism
Wang et al. Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot
Frints et al. Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Foley et al. Autosomal recessive inheritance of classic Bethlem myopathy
Kim et al. Alteration of exon definition causes amelogenesis imperfecta
Mokry et al. Genome-wide association study for backfat thickness in Canchim beef cattle using Random Forest approach
Liu et al. Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians
Lemay et al. Bleomycin-induced pulmonary fibrosis susceptibility genes in AcB/BcA recombinant congenic mice
Kobayashi et al. No evidence of PEG1/MEST gene mutations in Silver‐Russell syndrome patients
Negi et al. Polymorphisms in the promoter region of iNOS predispose to rheumatoid arthritis in south Indian Tamils
Guzmán et al. Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene
Shiinoki et al. Screening for variants of the uncoupling protein 2 gene in Japanese patients with non—insulin-dependent diabetes mellitus
Laguette et al. Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament ruptures
Lima et al. A polymorphism in the NPPA gene associates with asthma
Lakhssassi et al. Genome-Wide association study demonstrates the role played by the Cd226 gene in rasa aragonesa sheep reproductive seasonality