Cargando…

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9 (proprotein convertase subtilisin-kexin ty...

Descripción completa

Detalles Bibliográficos
Autores principales:	Marduel, Marie, Carrié, Alain, Sassolas, Agnes, Devillers, Martine, Carreau, Valérie, Di Filippo, Mathilde, Erlich, Danièle, Abifadel, Marianne, Marques-Pinheiro, Alice, Munnich, Arnold, Junien, Claudine, Boileau, Catherine, Varret, Mathilde, Rabès, Jean-Pierre
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:	Mutation in Brief
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152176/ https://www.ncbi.nlm.nih.gov/pubmed/20809525 http://dx.doi.org/10.1002/humu.21348

Ejemplares similares

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia
por: Elbitar, Sandy, et al.
Publicado: (2018)

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene
por: Nikasa, Parisa, et al.
Publicado: (2021)

Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population
por: Jelassi, Awatef, et al.
Publicado: (2013)

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1
por: Nishizaki, Yoshimi, et al.
Publicado: (2016)

A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family
por: Wang, Binbin, et al.
Publicado: (2011)

Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, and Diagnosis
por: Abifadel, Marianne S., et al.
Publicado: (2021)

A Japanese case of familial hypercholesterolemia with a novel mutation in the LDLR gene
por: Nagahara, Keiko, et al.
Publicado: (2019)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia
por: Abou Khalil, Yara, et al.
Publicado: (2022)

Evaluating Self-declared Ancestry of U.S. Americans with Autosomal, Y-chromosomal and Mitochondrial DNA
por: Lao, Oscar, et al.
Publicado: (2010)

Genetic and molecular architecture of familial hypercholesterolemia
por: Abifadel, Marianne, et al.
Publicado: (2022)

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, et al.
Publicado: (2020)

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
por: Deng, Sheng, et al.
Publicado: (2020)

The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population
por: Li, Jin, et al.
Publicado: (2020)

Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”
por: Wang, Jinling, et al.
Publicado: (2020)

Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear
por: Miao, Kaisong, et al.
Publicado: (2019)

Mitochondrial tRNA mutations in Chinese children with tic disorders
por: Jiang, Peifang, et al.
Publicado: (2020)

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
por: Button, Emily L., et al.
Publicado: (2022)

Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome
por: Kapuganti, Ramani Shyam, et al.
Publicado: (2023)

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
por: Ghaleb, Youmna, et al.
Publicado: (2022)

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
por: Hopkins, Paul N., et al.
Publicado: (2015)

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)
por: Georges, Amandine, et al.
Publicado: (2011)

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon
por: Ayoub, Carine, et al.
Publicado: (2022)

A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease
por: Bademci, Güney, et al.
Publicado: (2010)

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer
por: Lubbe, Steven J, et al.
Publicado: (2011)

Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
por: Natsuga, Ken, et al.
Publicado: (2010)

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
por: Depienne, Christel, et al.
Publicado: (2011)

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
por: Maselli, R A, et al.
Publicado: (2009)

A Novel Mutation in CRYBB1 Associated with Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer But Not the βB1-crystallin Homomer
por: Wang, Kai Jie, et al.
Publicado: (2011)

Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
por: Kunogi, Makiko, et al.
Publicado: (2010)

Lynch Syndrome-associated Mutations in MSH2 Alter DNA Repair and Checkpoint Response Functions In Vivo
por: Mastrocola, Adam S, et al.
Publicado: (2010)

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
por: Nuytemans, Karen, et al.
Publicado: (2010)

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression
por: Thiele, Holger, et al.
Publicado: (2010)

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits
por: Horn, Denise, et al.
Publicado: (2010)

A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization
por: Molatore, Sara, et al.
Publicado: (2010)

Adenine DNA Glycosylase Activity of 14 Human MutY Homolog (MUTYH) Variant Proteins Found in Patients with Colorectal Polyposis and Cancer
por: Goto, Masanori, et al.
Publicado: (2010)

Legius Syndrome in Fourteen Families
por: Denayer, Ellen, et al.
Publicado: (2011)

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family
por: Hilhorst-Hofstee, Yvonne, et al.
Publicado: (2010)

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease
por: Tappino, Barbara, et al.
Publicado: (2010)

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
por: Coppieters, Frauke, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_qme4kvl2rq1nd7vin9h06ik2pc