Christian P. Hamel mainly investigates Genetics, Retinitis pigmentosa, Mutation, Pathology and Mitochondrion. His Retinitis pigmentosa research incorporates themes from Genetic counseling, Genetic heterogeneity, Genetic linkage and Genotype. His Mutation research integrates issues from Hearing loss, Neuroscience and Mitochondrial DNA.
His study in Pathology is interdisciplinary in nature, drawing from both Retina, Retinal, Compound heterozygosity and Internal medicine. The concepts of his Mitochondrion study are interwoven with issues in Molecular biology and Saccharomyces cerevisiae. Christian P. Hamel has included themes like mitochondrial fusion, Optic Atrophy 1, MFN2 and Retinal ganglion in his Cell biology study.
His main research concerns Genetics, Gene, Retinitis pigmentosa, Ophthalmology and Atrophy. His study in Genetics focuses on Mutation, Missense mutation, Genetic heterogeneity, Candidate gene and Exon. His work deals with themes such as Phenotype and Mutant, which intersect with Mutation.
His Retinitis pigmentosa research is multidisciplinary, relying on both Retinal degeneration, Stargardt disease and Allele. The Atrophy study combines topics in areas such as Retinal ganglion, Hearing loss and Optic nerve. In his study, which falls under the umbrella issue of Retinal Dystrophies, Cell biology and Dystrophy is strongly linked to Retinal pigment epithelium.
His primary scientific interests are in Genetics, Atrophy, Gene, Ophthalmology and Mutation. Retinitis pigmentosa, Genetic heterogeneity, Exome, Allele and Disease gene identification are the core of his Genetics study. The various areas that Christian P. Hamel examines in his Atrophy study include Endocrinology, Hearing loss and Optic nerve.
His Gene research focuses on Usher syndrome in particular. His Mutation study integrates concerns from other disciplines, such as Mutant, Pediatrics and Exon. In his study, Biochemistry and Loss function is inextricably linked to Cell biology, which falls within the broad field of Retinal.
Mutation, Genetics, Atrophy, Missense mutation and Ophthalmology are his primary areas of study. The study incorporates disciplines such as Molecular biology, Genetic heterogeneity, Mutant and Retinitis pigmentosa in addition to Mutation. His Retinitis pigmentosa research includes themes of Retinal degeneration, Dystrophy and Macular dystrophy.
His Atrophy research includes elements of Endocrinology, Hearing loss, Mitochondrion and Optic nerve. As a part of the same scientific study, Christian P. Hamel usually deals with the Optic nerve, concentrating on Retinal ganglion and frequently concerns with Optic neuropathy and Cell biology. His Visual acuity and Choroideremia study in the realm of Ophthalmology interacts with subjects such as Cone.
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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
C Delettre;G Lenaers;J-M Griffoin;N Gigarel.
Nature Genetics (2000)
Mutations in RPE65 cause Leber's congenital amaurosis
Marlhens F;Bareil C;Griffoin Jm;Zrenner E.
Nature Genetics (1997)
Cone rod dystrophies
Christian P Hamel.
Orphanet Journal of Rare Diseases (2007)
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.
Aurélien Olichon;Laurent J Emorine;Eric Descoins;Laetitia Pelloquin.
FEBS Letters (2002)
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy.
Human Mutation (2004)
Mutation spectrum and splicing variants in the OPA1 gene.
Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus.
Human Genetics (2001)
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
Dominique Weil;Aziz El-Amraoui;Saber Masmoudi;Mirna Mustapha.
Human Molecular Genetics (2003)
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller.
Nature Genetics (2006)
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome
Corinne Stoetzel;Jean Muller;Virginie Laurier;Erica E. Davis.
American Journal of Human Genetics (2007)
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