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Wyświetlanie 1-20 z 138
Tytuł:
Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations.
Autorzy:
Coussa RG; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Sohn EH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Han IC; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Parikh S; Cleveland Clinic, Mitochondrial Medicine Center, Cleveland, Ohio, USA.
Traboulsi EI; Cleveland Clinic, Cole Eye Institute, Center for Genetic Eye Diseases, Cleveland, Ohio, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2021 Aug; Vol. 42 (4), pp. 420-430. Date of Electronic Publication: 2021 Apr 08.
Typ publikacji:
Journal Article; Meta-Analysis
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Mitochondrial Diseases/*genetics
Retinal Diseases/*genetics
Visual Acuity/*physiology
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cross-Sectional Studies ; DNA Mutational Analysis ; Female ; Humans ; Likelihood Functions ; Male ; Middle Aged ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/physiopathology ; Retinal Diseases/diagnosis ; Retinal Diseases/physiopathology ; Retinal Pigment Epithelium/pathology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Leber's Hereditary Optic Neuropathy with visual recovery caused by two rare mutations.
Autorzy:
Kisilevsky E; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Margolin EA; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2021 Aug; Vol. 42 (4), pp. 500-502. Date of Electronic Publication: 2021 May 07.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Mitochondrial Diseases/*genetics
Optic Atrophy, Hereditary, Leber/*genetics
Recovery of Function/*physiology
Visual Acuity/*physiology
Visual Fields/*physiology
Aged ; Blindness/diagnosis ; Blindness/physiopathology ; DNA Mutational Analysis ; Humans ; Male ; Middle Aged ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/physiopathology ; Optic Atrophy, Hereditary, Leber/diagnosis ; Optic Atrophy, Hereditary, Leber/physiopathology ; Visual Field Tests
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.
Autorzy:
Vandeputte J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
Van Heetvelde M; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Van Cauwenbergh C; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.
Seneca S; Center for Medical Genetics, UZ Brussel, Research Group Reproduction & Genetics, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Brussels, Belgium.
De Baere E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Leroy BP; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2021 Aug; Vol. 42 (4), pp. 440-445. Date of Electronic Publication: 2021 Apr 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
NADH Dehydrogenase/*genetics
Optic Atrophy, Hereditary, Leber/*genetics
Adult ; Asian People/genetics ; DNA Mutational Analysis ; Electroretinography ; Evoked Potentials, Visual/physiology ; Female ; Heteroplasmy ; Humans ; Ophthalmoscopy ; Optic Atrophy, Hereditary, Leber/diagnosis ; Optic Atrophy, Hereditary, Leber/physiopathology ; Scotoma/genetics ; Siblings ; Slit Lamp Microscopy ; Tomography, Optical Coherence ; Visual Acuity/physiology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Age-induced mitochondrial DNA point mutations are inadequate to alter metabolic homeostasis in response to nutrient challenge.
Autorzy:
Moore TM; Department of Biological Sciences, Dana & David Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA, USA.; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Zhou Z; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Strumwasser AR; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Cohn W; Department of Psychiatry and Biobehavioral Sciences & The Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Lin AJ; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Cory K; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Whitney K; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Ho T; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Ho T; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Lee JL; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Rucker DH; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Hoang AN; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Widjaja K; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Abrishami AD; Division of Cardiology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Charugundla S; Division of Cardiology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Stiles L; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Whitelegge JP; Department of Psychiatry and Biobehavioral Sciences & The Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Turcotte LP; Department of Biological Sciences, Dana & David Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA, USA.
Wanagat J; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Hevener AL; Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Iris Cantor-UCLA Women's Health Center, University of California, Los Angeles, CA, USA.
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Źródło:
Aging cell [Aging Cell] 2020 Nov; Vol. 19 (11), pp. e13166. Date of Electronic Publication: 2020 Oct 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Mitochondria, Liver/*metabolism
Mitochondria, Muscle/*metabolism
Animals ; Diet, High-Fat ; Disease Models, Animal ; Homeostasis ; Mice ; Mitochondria, Liver/genetics ; Mitochondria, Muscle/genetics ; Nutrients ; Starvation/genetics ; Starvation/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations.
Autorzy:
Zhang Y; Department of Electrical Engineering and Computer Science, University of Cincinnati, Cincinnati, OH, 45221, USA.
Kaynak A; Department of Biomedical Engineering, University of Cincinnati, Cincinnati, OH, 45221, USA.
Huang T; Department of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, 45229, USA.
Esfandiari L; Department of Electrical Engineering and Computer Science, University of Cincinnati, Cincinnati, OH, 45221, USA. .; Department of Biomedical Engineering, University of Cincinnati, Cincinnati, OH, 45221, USA. .
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Źródło:
Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2019 Apr; Vol. 411 (10), pp. 1935-1941. Date of Electronic Publication: 2019 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
DNA Mutational Analysis/*instrumentation
DNA, Circular/*genetics
DNA, Mitochondrial/*genetics
Base Sequence ; Cells, Cultured ; DNA Mutational Analysis/economics ; DNA Mutational Analysis/methods ; DNA, Circular/analysis ; DNA, Mitochondrial/analysis ; Electrochemical Techniques/economics ; Electrochemical Techniques/instrumentation ; Electrochemical Techniques/methods ; Equipment Design ; Humans ; Peptide Nucleic Acids/chemistry ; Peptide Nucleic Acids/genetics ; Plasmids/analysis ; Plasmids/genetics ; Time Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias.
Autorzy:
Zhong S; Department of Neurology, Peking University People's Hospital, Beijing, China.
Wen S; Key Laboratory of Laboratory Medicine, College of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, China.
Qiu Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Yu Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Xin L; Department of Health, Exercise Science, and Recreation Management, University of Mississippi, University, Mississippi.
He Y; Department of Neurology, Peking University People's Hospital, Beijing, China.
Gao X; Department of Neurology, Peking University People's Hospital, Beijing, China.
Fang H; Key Laboratory of Laboratory Medicine, College of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, China.
Hong D; Department of Neurology, Peking University People's Hospital, Beijing, China.
Zhang J; Department of Neurology, Peking University People's Hospital, Beijing, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Mar; Vol. 7 (3), pp. e541. Date of Electronic Publication: 2019 Jan 08.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Penetrance*
Point Mutation*
DNA, Mitochondrial/*genetics
Striatonigral Degeneration/*genetics
Humans ; Male ; Pedigree ; Sex Factors ; Striatonigral Degeneration/diagnostic imaging ; Striatonigral Degeneration/pathology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Deleterious mitochondrial DNA point mutations are overrepresented in Drosophila expressing a proofreading-defective DNA polymerase γ.
Autorzy:
Samstag CL; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, United States of America.; Department of Genome Sciences, University of Washington, Seattle, WA, United States of America.
Hoekstra JG; Department of Pathology, University of Washington, Seattle, WA, United States of America.
Huang CH; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States of America.
Chaisson MJ; Computational Biology and Bioinformatics, University of Southern California, Los Angeles, CA, United States of America.
Youle RJ; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States of America.
Kennedy SR; Department of Pathology, University of Washington, Seattle, WA, United States of America.
Pallanck LJ; Department of Genome Sciences, University of Washington, Seattle, WA, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2018 Nov 19; Vol. 14 (11), pp. e1007805. Date of Electronic Publication: 2018 Nov 19 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Point Mutation*
DNA Polymerase gamma/*genetics
DNA Polymerase gamma/*metabolism
DNA, Mitochondrial/*genetics
Drosophila Proteins/*genetics
Drosophila Proteins/*metabolism
Drosophila melanogaster/*enzymology
Drosophila melanogaster/*genetics
Aging/genetics ; Aging/metabolism ; Animals ; Animals, Genetically Modified ; DNA Replication/genetics ; Dopaminergic Neurons/metabolism ; Dopaminergic Neurons/pathology ; Drosophila melanogaster/cytology ; Genes, Insect ; Longevity/genetics ; Mitochondria/enzymology ; Mitochondria/genetics ; Motor Activity/genetics ; Organelle Biogenesis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family.
Autorzy:
Weerasinghe CAL; Key Laboratory of Enzyme and Protein Technology, VNU University of Science, Hanoi 100000, Vietnam.
Bui BT; Key Laboratory of Enzyme and Protein Technology, VNU University of Science, Hanoi 100000, Vietnam.
Vu TT; Key Laboratory of Enzyme and Protein Technology, VNU University of Science, Hanoi 100000, Vietnam.
Nguyen HT; Key Laboratory of Enzyme and Protein Technology, VNU University of Science, Hanoi 100000, Vietnam.
Phung BK; Key Laboratory of Enzyme and Protein Technology, VNU University of Science, Hanoi 100000, Vietnam.
Nguyen VM; Key Laboratory of Enzyme and Protein Technology, VNU University of Science, Hanoi 100000, Vietnam.
Pham VA; Department of Neurology, Vietnam National Children's Hospital, Hanoi 100000, Vietnam.
Cao VH; Department of Neurology, Vietnam National Children's Hospital, Hanoi 100000, Vietnam.
Phan TN; Key Laboratory of Enzyme and Protein Technology, VNU University of Science, Hanoi 100000, Vietnam.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2018 May; Vol. 17 (5), pp. 6919-6925. Date of Electronic Publication: 2018 Mar 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Leigh Disease/*genetics
Mitochondrial Proton-Translocating ATPases/*genetics
Adult ; Asian People/genetics ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Leigh Disease/epidemiology ; Leigh Disease/pathology ; Male ; Middle Aged ; Pedigree ; Vietnam/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
Autorzy:
Tabebi M; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.; Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Safi W; Department of Endocrinology Diabetology, CHU Hedi Chaker, Sfax, Tunisia.
Felhi R; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
Alila Fersi O; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
Keskes L; Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Abid M; Department of Endocrinology Diabetology, CHU Hedi Chaker, Sfax, Tunisia.
Mnif M; Department of Endocrinology Diabetology, CHU Hedi Chaker, Sfax, Tunisia.
Fakhfakh F; Molecular and Functional Genetics Laboratory, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1292. Date of Electronic Publication: 2020 May 11.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cardiomyopathies/*genetics
DNA, Mitochondrial/*genetics
Diabetes Mellitus/*genetics
Diabetic Retinopathy/*genetics
Mitochondrial Diseases/*genetics
Adult ; Cardiomyopathies/pathology ; Diabetes Mellitus/pathology ; Diabetic Retinopathy/pathology ; Female ; Gene Deletion ; Humans ; Leukocytes/metabolism ; Male ; Mitochondrial Diseases/pathology ; Muscle, Skeletal/metabolism ; Pedigree ; Point Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery.
Autorzy:
Chin RM; Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT, 06510, USA. .
Panavas T; Biotherapeutic Molecule Discovery, Boehringer Ingelheim Pharmaceuticals, 900 Ridgebury Road, Ridgefield, CT, 06877, USA.
Brown JM; Wave Life Sciences, 733 Concord Ave., Cambridge, MA, 02138, USA.
Johnson KK; Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT, 06510, USA.
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Źródło:
BMC research notes [BMC Res Notes] 2018 Mar 27; Vol. 11 (1), pp. 205. Date of Electronic Publication: 2018 Mar 27.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Drug Discovery/*methods
Mitochondrial Diseases/*genetics
Adult ; Cell Line ; Child ; Child, Preschool ; Female ; Humans ; Lymphocytes/drug effects ; Lymphocytes/metabolism ; Male ; Mitochondrial Diseases/drug therapy ; Mitochondrial Diseases/pathology ; Oxygen Consumption/drug effects ; Small Molecule Libraries/therapeutic use ; Ubiquinone/analogs & derivatives ; Ubiquinone/therapeutic use ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.
Autorzy:
Lechowicz U; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
Pollak A; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
Frączak A; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
Rydzanicz M; Department of Medical Genetics, Center for Biostructure, Medical University of Warsaw, 02‑106 Warsaw, Poland.
Stawiński P; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
Lorens A; Department of Implants and Auditory Perception, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
Skarżyński PH; World Hearing Center, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
Skarżyński H; Oto‑Rhino‑Laryngology Surgery Clinic, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
Płoski R; Department of Medical Genetics, Center for Biostructure, Medical University of Warsaw, 02‑106 Warsaw, Poland.
Ołdak M; Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, 02‑042 Warsaw, Poland.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2018 Jan; Vol. 17 (1), pp. 1782-1790. Date of Electronic Publication: 2017 Nov 15.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Hearing Loss/*genetics
Mitochondria/*genetics
RNA, Transfer, Ser/*genetics
Adult ; Aged ; Aged, 80 and over ; Female ; Hearing Loss/epidemiology ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Pedigree ; Poland/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations.
Autorzy:
Li D; State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China.
Du X; State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China.
Guo X; State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China.
Zhan L; Department of Gastroenterology, Second Affiliated Hospital of Harbin Medical University, Harbin, 150086, China.
Li X; State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China.
Yin C; State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China.
Chen C; State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China.
Li M; Fondation Mérieux, 69002, Lyon, France.
Li B; Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, 37232, USA.
Yang H; Division of Population Science, Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, 19107, USA.
Xing J; State Key Laboratory of Cancer Biology and Experimental Teaching Center of Basic Medicine, Fourth Military Medical University, 169 Changle West Road, Xi'an, 710032, China. .
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Źródło:
Journal of experimental & clinical cancer research : CR [J Exp Clin Cancer Res] 2017 Nov 28; Vol. 36 (1), pp. 168. Date of Electronic Publication: 2017 Nov 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Mitochondria/*genetics
Neoplasms/*genetics
Amino Acids/genetics ; Codon/genetics ; DNA, Mitochondrial/chemistry ; Databases, Genetic ; Humans ; Mitochondria/chemistry ; Mutation Rate ; Selection, Genetic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.
Autorzy:
Nesti C; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy. cla_.
Rubegni A; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy.
Tolomeo D; Department of Clinical and Experimental Medicine, University of Pisa, via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.
Baldacci J; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy.
Cassandrini D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy.
D'Amore F; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy.
Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Pisa, Italy. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Aug; Vol. 40 (8), pp. 1705-1708. Date of Electronic Publication: 2019 Apr 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
DNA, Mitochondrial/*genetics
RNA, Transfer/*genetics
Adult ; Cardiomyopathy, Dilated/genetics ; Diabetes Mellitus, Type 2/genetics ; Eye Diseases/genetics ; Hearing Loss, Sensorineural/genetics ; Humans ; Male ; Phenotype ; Point Mutation ; Renal Insufficiency/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.
Autorzy:
Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13. 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos, 3-5. Pabellon 11, Planta 0. 28029, Madrid, Spain.
López-Gallardo E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13. 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos, 3-5. Pabellon 11, Planta 0. 28029, Madrid, Spain.
Hernández-Ainsa C; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13. 50009, Zaragoza, Spain.
Habbane M; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain.
Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13. 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos, 3-5. Pabellon 11, Planta 0. 28029, Madrid, Spain.
Bayona-Bafaluy MP; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain. .; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13. 50009, Zaragoza, Spain. .; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos, 3-5. Pabellon 11, Planta 0. 28029, Madrid, Spain. .
Ruiz-Pesini E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, C/ Miguel Servet, 177. 50013, Zaragoza, Spain. .; Instituto de Investigación Sanitaria (IIS) de Aragón, Av. San Juan Bosco, 13. 50009, Zaragoza, Spain. .; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Av. Monforte de Lemos, 3-5. Pabellon 11, Planta 0. 28029, Madrid, Spain. .; Fundación ARAID, ARAID, Av. de Ranillas, 1-D. Planta 2º, oficina B. 50018, Zaragoza, Spain. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Jun 21; Vol. 14 (1), pp. 150. Date of Electronic Publication: 2019 Jun 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA, Mitochondrial/*genetics
Mutation/*genetics
Optic Atrophy, Hereditary, Leber/*genetics
Diet, Ketogenic ; Female ; Humans ; Male ; Point Mutation/genetics
Czasopismo naukowe
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Tytuł:
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.
Autorzy:
Jiang Z; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Zhang Y; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, The Metabolic Diseases Biobank, Center for Translational Medicine, Shanghai Key Laboratory of Diabetes, Shanghai 200233, China.
Yan J; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, The Key Laboratory of Embryo Molecular Biology, Ministry of Health of China & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China.
Li F; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Geng X; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Lu H; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Wei X; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Department of Diagnostic Radiology, Shanghai 200233, China.
Feng Y; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Department of Otolaryngology Head and Neck Surgery, Shanghai 200233, China.
Wang C; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Jia W; Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
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Źródło:
Journal of diabetes research [J Diabetes Res] 2019 Apr 04; Vol. 2019, pp. 5184647. Date of Electronic Publication: 2019 Apr 04 (Print Publication: 2019).
Typ publikacji:
Journal Article
MeSH Terms:
DNA, Mitochondrial/*genetics
Deafness/*genetics
Deafness/*physiopathology
Diabetes Mellitus, Type 2/*genetics
Diabetes Mellitus, Type 2/*physiopathology
Leucine/*genetics
Mitochondrial Diseases/*genetics
Mitochondrial Diseases/*physiopathology
RNA, Transfer/*genetics
Adenosine Triphosphate/metabolism ; Adult ; Aged ; Aged, 80 and over ; Family Health ; Female ; Genetic Predisposition to Disease ; Humans ; Leukocytes, Mononuclear/cytology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Point Mutation ; Reactive Oxygen Species/metabolism ; Sequence Analysis, DNA
SCR Disease Name:
Noninsulin-dependent diabetes mellitus with deafness
Czasopismo naukowe
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Tytuł:
Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report.
Autorzy:
Lahiri D; Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, 700025, India. .
Sawale VM; Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, 700025, India.
Banerjee S; Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, 700025, India.
Dubey S; Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, 700025, India.
Roy BK; Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, 700025, India.
Das SK; Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, 700025, India.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2019 Mar 06; Vol. 13 (1), pp. 63. Date of Electronic Publication: 2019 Mar 06.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Anti-Dyskinesia Agents/*therapeutic use
Chorea/*diagnosis
DNA, Mitochondrial/*genetics
Haloperidol/*therapeutic use
MELAS Syndrome/*diagnosis
Point Mutation/*genetics
Adolescent ; Chorea/genetics ; Chorea/physiopathology ; Genetic Testing ; Humans ; MELAS Syndrome/drug therapy ; MELAS Syndrome/genetics ; MELAS Syndrome/physiopathology ; Male ; Micronutrients/therapeutic use ; Treatment Outcome ; Ubiquinone/therapeutic use
Czasopismo naukowe
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Tytuł:
Reduced adolescent-age spatial learning ability associated with elevated juvenile-age superoxide levels in complex I mouse mutants.
Autorzy:
Mayer J; Oscar-Langendorff-Institute of Physiology, Rostock University Medical Center, Rostock, Germany.
Reichart G; Oscar-Langendorff-Institute of Physiology, Rostock University Medical Center, Rostock, Germany.
Tokay T; Oscar-Langendorff-Institute of Physiology, Rostock University Medical Center, Rostock, Germany; Center for Life Sciences, Nazarbayev University, Astana, Republic of Kazakhstan.
Lange F; Oscar-Langendorff-Institute of Physiology, Rostock University Medical Center, Rostock, Germany.
Baltrusch S; Institute of Medical Biochemistry and Molecular Biology, Rostock University Medical Center, Rostock, Germany.
Junghanss C; Department of Hematology/Oncology/Palliative Medicine, Rostock University Medical Center, Rostock, Germany.
Wolkenhauer O; Department of Systems Biology and Bioinformatics, University of Rostock, Rostock, Germany.
Jaster R; Division of Gastroenterology, Department of Medicine II, Rostock University Medical Center, Rostock, Germany.
Kunz M; Department of Dermatology, Venereology and Allergology, University of Leipzig, Leipzig, Germany.
Tiedge M; Institute of Medical Biochemistry and Molecular Biology, Rostock University Medical Center, Rostock, Germany.
Ibrahim S; Department of Dermatology, Lübeck University Medical Center, Lübeck, Germany.
Fuellen G; Institute for Biostatistics and Informatics in Medicine and Ageing Research, Rostock, Germany; Interdisciplinary Faculty, University of Rostock, Rostock, Germany.
Köhling R; Oscar-Langendorff-Institute of Physiology, Rostock University Medical Center, Rostock, Germany; Interdisciplinary Faculty, University of Rostock, Rostock, Germany.
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Źródło:
PloS one [PLoS One] 2015 Apr 08; Vol. 10 (4), pp. e0123863. Date of Electronic Publication: 2015 Apr 08 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Maze Learning*
Point Mutation*
DNA, Mitochondrial/*genetics
Electron Transport Complex I/*genetics
Electron Transport Complex III/*genetics
Reactive Oxygen Species/*metabolism
Animals ; Cognition ; DNA, Mitochondrial/metabolism ; Electron Transport Complex I/metabolism ; Electron Transport Complex III/metabolism ; Female ; Gene Expression ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Mitochondria/genetics ; Mitochondria/metabolism ; Mitochondria/pathology ; Orientation/physiology ; Space Perception/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.
Autorzy:
Leng Y; Department of Neurology, Peking University First Hospital , Beijing , China .
Liu Y
Fang X
Li Y
Yu L
Yuan Y
Wang Z
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Źródło:
Mitochondrial DNA [Mitochondrial DNA] 2015 Apr; Vol. 26 (2), pp. 208-12. Date of Electronic Publication: 2014 Apr 08.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
Agnosia/*genetics
DNA, Mitochondrial/*chemistry
Electron Transport Complex I/*genetics
Leigh Disease/*genetics
MELAS Syndrome/*genetics
Adolescent ; Agnosia/diagnosis ; Genes, Mitochondrial ; Genotyping Techniques ; Humans ; Leigh Disease/diagnosis ; MELAS Syndrome/diagnosis ; Magnetic Resonance Imaging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
7501 T > A mitochondrial DNA variant in a patient with glomerulosclerosis.
Autorzy:
Imasawa T; Kidney and Diabetes Center, National Hospital Organization Chiba-East Hospital , Chiba-city, Chiba , Japan .
Tanaka M
Yamaguchi Y
Nakazato T
Kitamura H
Nishimura M
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Źródło:
Renal failure [Ren Fail] 2014 Oct; Vol. 36 (9), pp. 1461-5. Date of Electronic Publication: 2014 Aug 04.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
DNA, Mitochondrial/*genetics
Glomerulosclerosis, Focal Segmental/*genetics
Mitochondrial Diseases/*genetics
Epithelial Cells/pathology ; Female ; Glomerulosclerosis, Focal Segmental/pathology ; Humans ; Kidney Glomerulus/pathology ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.
Autorzy:
Greaves LC; Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Nooteboom M; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Elson JL; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.
Tuppen HA; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Taylor GA; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Commane DM; Human Nutrition Research Centre, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Arasaradnam RP; Human Nutrition Research Centre, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Khrapko K; Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States of America.
Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Kirkwood TB; Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, United Kingdom.
Mathers JC; Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom; Human Nutrition Research Centre, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
Turnbull DM; Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.
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Źródło:
PLoS genetics [PLoS Genet] 2014 Sep 18; Vol. 10 (9), pp. e1004620. Date of Electronic Publication: 2014 Sep 18 (Print Publication: 2014).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
Aging/*genetics
DNA, Mitochondrial/*genetics
Mitochondria/*genetics
Mitochondria/*metabolism
Adolescent ; Adult ; Age Factors ; Aged ; Cytochromes c/genetics ; Cytochromes c/metabolism ; DNA Mutational Analysis ; High-Throughput Nucleotide Sequencing ; Humans ; Intestinal Mucosa/metabolism ; Middle Aged ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism ; Mutation Rate ; Sensitivity and Specificity ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 138

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