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Tytuł:
Poor semen parameters are associated with abnormal methylation of imprinted genes in sperm DNA.
Autorzy:
Song B; Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, 230032, Hefei, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, 230032, Hefei, China.; Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, 230032, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, 230032, Hefei, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, 230032, Hefei, China.
Chen Y; Department of Gynecology and Obstetrics, The Affiliated Wuxi Maternity and Child Health Care Hospital of Nanjing Medical University, 214000, Wuxi, China.
Wang C; Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, 230032, Hefei, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, 230032, Hefei, China.; Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, 230032, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, 230032, Hefei, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, 230032, Hefei, China.
Li G; Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, 230032, Hefei, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, 230032, Hefei, China.; Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, 230032, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, 230032, Hefei, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, 230032, Hefei, China.
Wei Z; Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, 230032, Hefei, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, 230032, Hefei, China.; Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, 230032, Hefei, China.; Anhui Province Key Laboratory of Reproductive Health and Genetics, 230032, Hefei, China.; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, 230032, Hefei, China.
He X; Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, 230032, Hefei, China. .; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, 230032, Hefei, China. .; Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, 230032, Hefei, China. .; Anhui Province Key Laboratory of Reproductive Health and Genetics, 230032, Hefei, China. .; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, 230032, Hefei, China. .
Cao Y; Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, 230032, Hefei, China. .; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, 230032, Hefei, China. .; Ministry of Education Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, 230032, Hefei, China. .; Anhui Province Key Laboratory of Reproductive Health and Genetics, 230032, Hefei, China. .; Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, 230032, Hefei, China. .
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Źródło:
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2022 Nov 10; Vol. 20 (1), pp. 155. Date of Electronic Publication: 2022 Nov 10.
Typ publikacji:
Journal Article
MeSH Terms:
Insulin-Like Growth Factor II*/genetics
Semen*/metabolism
Child ; Male ; Humans ; Genomic Imprinting ; KCNQ1 Potassium Channel/genetics ; KCNQ1 Potassium Channel/metabolism ; Sperm Motility/genetics ; Spermatozoa/metabolism ; DNA Methylation/genetics ; DNA/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The auxiliary subunit KCNE1 regulates KCNQ1 channel response to sustained calcium-dependent PKC activation.
Autorzy:
Xu Parks X; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, United States of America.
Qudsi H; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, United States of America.
Braun C; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, United States of America.
Lopes CMB; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, United States of America.
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Źródło:
PloS one [PLoS One] 2020 Aug 24; Vol. 15 (8), pp. e0237591. Date of Electronic Publication: 2020 Aug 24 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Calcium/*metabolism
KCNQ1 Potassium Channel/*metabolism
Myocytes, Cardiac/*metabolism
Potassium Channels, Voltage-Gated/*metabolism
Protein Kinase C/*metabolism
Animals ; Female ; HEK293 Cells ; Humans ; KCNQ1 Potassium Channel/genetics ; Mutation ; Myocytes, Cardiac/cytology ; Potassium Channels, Voltage-Gated/genetics ; Protein Kinase C/genetics ; Rats
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Upgraded molecular models of the human KCNQ1 potassium channel.
Autorzy:
Kuenze G; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
Duran AM; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
Woods H; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
Brewer KR; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Biochemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
McDonald EF; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
Vanoye CG; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
George AL Jr; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
Sanders CR; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Biochemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
Meiler J; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Pharmacology, Vanderbilt University, Nashville, Tennessee, United States of America.
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Źródło:
PloS one [PLoS One] 2019 Sep 13; Vol. 14 (9), pp. e0220415. Date of Electronic Publication: 2019 Sep 13 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Models, Molecular*
KCNQ1 Potassium Channel/*chemistry
Humans ; Hydrogen Bonding ; KCNQ1 Potassium Channel/genetics ; KCNQ1 Potassium Channel/metabolism ; Lipids/chemistry ; Loss of Function Mutation ; Molecular Docking Simulation ; Molecular Dynamics Simulation ; Protein Binding ; Protein Conformation ; Structure-Activity Relationship
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Anomalous K v 7 channel activity in human malignant hyperthermia syndrome unmasks a key role for H 2 S and persulfidation in skeletal muscle.
Autorzy:
Vellecco V; Department of Pharmacy, School of Medicine, University of Naples Federico II, Naples, Italy.
Martelli A; Department of Pharmacy, University of Pisa, Pisa, Italy.
Bibli IS; Institute for Vascular Signalling, Centre for Molecular Medicine, Goethe University Frankfurt am Main, Frankfurt am Main, Germany.; German Center of Cardiovascular Research (DZHK), partner site RheinMain, Frankfurt am Main, Germany.
Vallifuoco M; Center of Biotechnologies, A. Cardarelli Hospital, Naples, Italy.
Manzo OL; Department of Pharmacy, School of Medicine, University of Naples Federico II, Naples, Italy.
Panza E; Department of Pharmacy, School of Medicine, University of Naples Federico II, Naples, Italy.
Citi V; Department of Pharmacy, University of Pisa, Pisa, Italy.
Calderone V; Department of Pharmacy, University of Pisa, Pisa, Italy.
de Dominicis G; UOSC, Pathological Anatomy, A. Cardarelli Hospital, Naples, Italy.
Cozzolino C; UOSC, Pathological Anatomy, A. Cardarelli Hospital, Naples, Italy.
Basso EM; Center of Biotechnologies, A. Cardarelli Hospital, Naples, Italy.
Mariniello M; Center of Biotechnologies, A. Cardarelli Hospital, Naples, Italy.
Fleming I; Institute for Vascular Signalling, Centre for Molecular Medicine, Goethe University Frankfurt am Main, Frankfurt am Main, Germany.; German Center of Cardiovascular Research (DZHK), partner site RheinMain, Frankfurt am Main, Germany.
Mancini A; Center of Biotechnologies, A. Cardarelli Hospital, Naples, Italy.
Bucci M; Department of Pharmacy, School of Medicine, University of Naples Federico II, Naples, Italy.
Cirino G; Department of Pharmacy, School of Medicine, University of Naples Federico II, Naples, Italy.
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Źródło:
British journal of pharmacology [Br J Pharmacol] 2020 Feb; Vol. 177 (4), pp. 810-823. Date of Electronic Publication: 2019 May 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hyperthermia*
KCNQ1 Potassium Channel*
Malignant Hyperthermia*
Cystathionine beta-Synthase ; Humans ; Muscle Contraction ; Muscle, Skeletal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Autorzy:
Chen J; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.; The Second Department of Cardiology, Department of Obstetrics and Gynecology, The Second People's Hospital of Guangdong Province, Guangzhou, 510310, Guangdong Province, China.
Li H; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.; The University of Hong Kong-Shenzhen Hospital, Shenzhen, 518048, Guangdong Province, China.
Guo S; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.; College of Plant Protection, Hunan Agricultural University, Changsha, 410128, Hunan Province, China.
Yang Z; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.; Department of Endocrinology and Metabolism, Zhuhai Hospital Affiliated to Jinan University, Zhuhai, 519000, Guangdong Province, China.
Sun S; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Zeng J; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Gou H; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Chen Y; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.
Wang F; Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Geriatrics Institute, Guangdong Cardiovascular Institute, Guangzhou, 510080, Guangdong Province, China.
Lin Y; The Second Department of Cardiology, Department of Obstetrics and Gynecology, The Second People's Hospital of Guangdong Province, Guangzhou, 510310, Guangdong Province, China.
Huang K; The Second Department of Cardiology, Department of Obstetrics and Gynecology, The Second People's Hospital of Guangdong Province, Guangzhou, 510310, Guangdong Province, China.
Yue H; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China. .
Ma Y; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China. .; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, China. .
Lin Y; The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China. .; Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Geriatrics Institute, Guangdong Cardiovascular Institute, Guangzhou, 510080, Guangdong Province, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 27; Vol. 17 (1), pp. 394. Date of Electronic Publication: 2022 Oct 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Brugada Syndrome*/genetics
Long QT Syndrome*/genetics
Humans ; KCNQ1 Potassium Channel/genetics ; Exome Sequencing ; ERG1 Potassium Channel/genetics ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; Mutation/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Generation of Isogenic hiPSCs with Targeted Edits at Multiple Intronic SNPs to Study the Effects of the Type 2 Diabetes Associated KCNQ1 Locus in American Indians.
Autorzy:
Nair AK; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Traurig M; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Sutherland JR; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Muller YL; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Grellinger ED; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Saporito L; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Nelson RG; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Bogardus C; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
Baier LJ; Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Phoenix, AZ 85004, USA.
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Źródło:
Cells [Cells] 2022 Apr 25; Vol. 11 (9). Date of Electronic Publication: 2022 Apr 25.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms:
Diabetes Mellitus, Type 2*/genetics
Diabetes Mellitus, Type 2*/metabolism
Induced Pluripotent Stem Cells*/metabolism
Adult ; Genomic Imprinting ; Humans ; KCNQ1 Potassium Channel/genetics ; KCNQ1 Potassium Channel/metabolism ; Polymorphism, Single Nucleotide/genetics ; American Indian or Alaska Native
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome.
Autorzy:
Grassi S; Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Department of Health Sciences, Section of Forensic Medical Sciences, University of Florence, Largo Brambilla 3, 50134 Florence, Italy.
Campuzano O; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, 17190 Girona, Spain.; Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.
Coll M; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, 17190 Girona, Spain.; Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.
Cazzato F; Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Iglesias A; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, 17190 Girona, Spain.; Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.
Ausania F; Department of Diagnostics and Public Health, Section of Forensic Medicine, University of Verona, 37122 Verona, Italy.
Scarnicci F; Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Sarquella-Brugada G; Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950 Barcelona, Spain.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.; Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Brugada J; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.; Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, 08950 Barcelona, Spain.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.; Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036 Barcelona, Spain.
Arena V; Area of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00147 Rome, Italy.
Oliva A; Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Brugada R; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, 17190 Girona, Spain.; Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.; Cardiology Service, Hospital Josep Trueta, University of Girona, 17007 Girona, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Oct 01; Vol. 23 (19). Date of Electronic Publication: 2022 Oct 01.
Typ publikacji:
Case Reports
MeSH Terms:
Long QT Syndrome*/complications
Long QT Syndrome*/genetics
Sinoatrial Node*/pathology
Adult ; Autopsy ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/pathology ; Female ; Humans ; KCNQ1 Potassium Channel ; Young Adult
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
In Vitro Drug Screening Using iPSC-Derived Cardiomyocytes of a Long QT-Syndrome Patient Carrying KCNQ1 & TRPM4 Dual Mutation: An Experimental Personalized Treatment.
Autorzy:
Wang F; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang First Aid Center, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China.
Han Y; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Sang W; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Wang L; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Liang X; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Wang L; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Xing Q; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Guo Y; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Zhang J; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Zhang L; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Zukela T; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Xiaokereti J; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Lu Y; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Zhou X; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Tang B; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
Li Y; Cardiac Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.; Xinjiang Key Laboratory of Cardiac Electrophysiology and Cardiac Remodeling, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
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Źródło:
Cells [Cells] 2022 Aug 11; Vol. 11 (16). Date of Electronic Publication: 2022 Aug 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Induced Pluripotent Stem Cells*/pathology
Long QT Syndrome*/drug therapy
Long QT Syndrome*/genetics
TRPM Cation Channels*/genetics
Arrhythmias, Cardiac/pathology ; Drug Evaluation, Preclinical ; Humans ; KCNQ1 Potassium Channel/genetics ; Lidocaine/pharmacology ; Mutation/genetics ; Myocytes, Cardiac/pathology ; Precision Medicine ; Quality of Life ; Verapamil/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.
Autorzy:
Yuniarti AR; Department of IT Convergence Engineering, Kumoh National Institute of Technology, Gumi, South Korea.
Setianto F; Department of IT Convergence Engineering, Kumoh National Institute of Technology, Gumi, South Korea.
Marcellinus A; Department of IT Convergence Engineering, Kumoh National Institute of Technology, Gumi, South Korea.
Hwang HJ; Department of IT Convergence Engineering, Kumoh National Institute of Technology, Gumi, South Korea.
Choi SW; Department of Mechanical & Biomedical Engineering, Kangwon National University, Chuncheon, South Korea.
Trayanova N; Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD, USA.
Lim KM; Department of IT Convergence Engineering, Kumoh National Institute of Technology, Gumi, South Korea.
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Źródło:
International journal for numerical methods in biomedical engineering [Int J Numer Method Biomed Eng] 2018 Jun; Vol. 34 (6), pp. e2970. Date of Electronic Publication: 2018 Apr 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Atrial Fibrillation*/diagnostic imaging
Atrial Fibrillation*/genetics
Atrial Fibrillation*/metabolism
Atrial Fibrillation*/physiopathology
Computer Simulation*
Heart Ventricles*/diagnostic imaging
Heart Ventricles*/metabolism
Heart Ventricles*/physiopathology
KCNQ1 Potassium Channel*/genetics
KCNQ1 Potassium Channel*/metabolism
Models, Cardiovascular*
Mutation, Missense*
Amino Acid Substitution ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Recombinant Production, Reconstruction in Lipid-Protein Nanodiscs, and Electron Microscopy of Full-Length α-Subunit of Human Potassium Channel Kv7.1.
Autorzy:
Shenkarev ZO; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, 117997, Russia. .
Karlova MG; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, 117997, Russia.; Lomonosov Moscow State University, Faculty of Biology, Moscow, 119991, Russia.
Kulbatskii DS; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, 117997, Russia.; Lomonosov Moscow State University, Faculty of Biology, Moscow, 119991, Russia.
Kirpichnikov MP; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, 117997, Russia.; Lomonosov Moscow State University, Faculty of Biology, Moscow, 119991, Russia.
Lyukmanova EN; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, 117997, Russia.; Lomonosov Moscow State University, Faculty of Biology, Moscow, 119991, Russia.
Sokolova OS; Lomonosov Moscow State University, Faculty of Biology, Moscow, 119991, Russia. .
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Źródło:
Biochemistry. Biokhimiia [Biochemistry (Mosc)] 2018 May; Vol. 83 (5), pp. 562-573.
Typ publikacji:
Journal Article
MeSH Terms:
Microscopy, Electron, Transmission*
KCNQ1 Potassium Channel/*chemistry
KCNQ1 Potassium Channel/*ultrastructure
Lipids/*chemistry
Nanostructures/*chemistry
Recombinant Proteins/*biosynthesis
Humans ; KCNQ1 Potassium Channel/biosynthesis ; KCNQ1 Potassium Channel/genetics ; Protein Structure, Secondary ; Protein Subunits/biosynthesis ; Protein Subunits/chemistry ; Protein Subunits/genetics ; Recombinant Proteins/chemistry ; Recombinant Proteins/genetics ; Recombinant Proteins/ultrastructure
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
ω-6 and ω-9 polyunsaturated fatty acids with double bonds near the carboxyl head have the highest affinity and largest effects on the cardiac I K s potassium channel.
Autorzy:
Bohannon BM; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, Florida.
Perez ME; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, Florida.
Liin SI; Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
Larsson HP; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, Florida.
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Źródło:
Acta physiologica (Oxford, England) [Acta Physiol (Oxf)] 2019 Feb; Vol. 225 (2), pp. e13186. Date of Electronic Publication: 2018 Oct 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Fatty Acids, Omega-6/*pharmacology
Fatty Acids, Unsaturated/*pharmacology
KCNQ1 Potassium Channel/*agonists
Potassium Channels, Voltage-Gated/*agonists
Action Potentials ; Animals ; Cells, Cultured ; Fatty Acids, Omega-6/chemistry ; Fatty Acids, Unsaturated/chemistry ; Humans ; KCNQ1 Potassium Channel/metabolism ; Oocytes/drug effects ; Oocytes/metabolism ; Potassium Channels, Voltage-Gated/metabolism ; Xenopus laevis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Novel Role of Arrhythmia-Related Gene KCNQ1 Revealed by Multi-Omic Analysis: Theragnostic Value and Potential Mechanisms in Lung Adenocarcinoma.
Autorzy:
Chang KT; Department of Emergency Medicine, Show Chwan Memorial Hospital, Changhua 500, Taiwan.
Wu HJ; Research Assistant Center, Show Chwan Memorial Hospital, Changhua 500, Taiwan.; Department of Biology, National Changhua University of Education, Changhua 500, Taiwan.
Liu CW; Shueiduei Elementary School, Gukeng Township, Yulin 646, Taiwan.
Li CY; Department of Surgery, Show Chwan Memorial Hospital, Changhua 500, Taiwan.; Graduate Institute of Biomedical Engineering, National Chung Hsing University, Taichung 402, Taiwan.
Lin HY; Research Assistant Center, Show Chwan Memorial Hospital, Changhua 500, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Feb 18; Vol. 23 (4). Date of Electronic Publication: 2022 Feb 18.
Typ publikacji:
Journal Article
MeSH Terms:
Adenocarcinoma of Lung/*genetics
Arrhythmias, Cardiac/*genetics
KCNQ1 Potassium Channel/*genetics
Lung Neoplasms/*genetics
A549 Cells ; Adenocarcinoma of Lung/pathology ; Biomarkers, Tumor/genetics ; Cell Line, Tumor ; Cell Movement/genetics ; Cell Proliferation/genetics ; Gene Expression Profiling/methods ; Gene Expression Regulation, Neoplastic/genetics ; Humans ; Kaplan-Meier Estimate ; Lung/pathology ; Lung Neoplasms/pathology ; Prognosis ; RNA, Small Interfering/genetics ; ROC Curve
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neuropathic pain and Kv7 voltage-gated potassium channels: The potential role of Kv7 activators in the treatment of neuropathic pain.
Autorzy:
Abd-Elsayed A; 1 Department of Anesthesiology, University of Cincinnati, Cincinnati, OH, USA.; 2 Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.
Jackson M; 1 Department of Anesthesiology, University of Cincinnati, Cincinnati, OH, USA.
Gu SL; 3 Department of Anesthesiology and Perioperative Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Fiala K; 2 Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.
Gu J; 1 Department of Anesthesiology, University of Cincinnati, Cincinnati, OH, USA.; 3 Department of Anesthesiology and Perioperative Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
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Źródło:
Molecular pain [Mol Pain] 2019 Jan-Dec; Vol. 15, pp. 1744806919864256.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms:
KCNQ1 Potassium Channel/*metabolism
Neuralgia/*metabolism
Action Potentials/drug effects ; Aminopyridines/therapeutic use ; Analgesics/therapeutic use ; Animals ; Carbamates/therapeutic use ; Humans ; Hyperalgesia/drug therapy ; Hyperalgesia/metabolism ; KCNQ1 Potassium Channel/antagonists & inhibitors ; Neuralgia/drug therapy ; Phenylenediamines/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.
Autorzy:
Akgun-Dogan O; Division of Pediatric Genetics, Umraniye Training and Research Hospital, Istanbul, Turkey.
Ağaoğlu NB; Department of Medical Genetics, Umraniye Training and Research Hospital, Istanbul, Turkey.
K Demirkol Y; Division of Pediatric Genetics, Umraniye Training and Research Hospital, Istanbul, Turkey.
Doğanay L; Department of Internal Medicine, Genomic Laboratory (GLAB), Umraniye Training and Research Hospital, Istanbul, Turkey.
Ergül Y; Department of Pediatric Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Research and Education Hospital, Istanbul, Turkey.
Karacan M; Department of Pediatric Cardiology, Umraniye Training and Research Hospital, Istanbul, Turkey.
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Źródło:
Journal of cardiovascular electrophysiology [J Cardiovasc Electrophysiol] 2022 Feb; Vol. 33 (2), pp. 262-273. Date of Electronic Publication: 2021 Dec 16.
Typ publikacji:
Journal Article
MeSH Terms:
Long QT Syndrome*/diagnosis
Long QT Syndrome*/genetics
Potassium Channels, Inwardly Rectifying*/genetics
Calcium Channels, L-Type/genetics ; ERG1 Potassium Channel/genetics ; Humans ; KCNQ1 Potassium Channel/genetics ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel ; Turkey
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of KCNQ1 gene: A nested case-control study.
Autorzy:
Hu F; Study Team of Shenzhen's Sanming Project, The Affiliated Luohu Hospital of Shenzhen University Health Science Center, Shenzhen, China.; School of Public Health, Shenzhen University Health Science Center, Shenzhen, China.
Zhang Y; School of Public Health, Shenzhen University Health Science Center, Shenzhen, China.
Qin P; School of Public Health, Shenzhen University Health Science Center, Shenzhen, China.
Zhao Y; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Liu D; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Zhou Q; School of Public Health, Shenzhen University Health Science Center, Shenzhen, China.
Tian G; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Li Q; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Guo C; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Wu X; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Qie R; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Huang S; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Han M; Department of Epidemiology and Health Statistics, School of Public Health, Zhengzhou University, Zhengzhou, China.
Li Y; School of Public Health, Shenzhen University Health Science Center, Shenzhen, China.
Zhang M; School of Public Health, Shenzhen University Health Science Center, Shenzhen, China.
Hu D; Study Team of Shenzhen's Sanming Project, The Affiliated Luohu Hospital of Shenzhen University Health Science Center, Shenzhen, China.
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Źródło:
Journal of diabetes [J Diabetes] 2021 Dec; Vol. 13 (12), pp. 975-986. Date of Electronic Publication: 2021 Aug 01.
Typ publikacji:
Journal Article
MeSH Terms:
Diabetes Mellitus, Type 2/*genetics
KCNQ1 Potassium Channel/*genetics
Adult ; Body Mass Index ; Case-Control Studies ; DNA Methylation ; Female ; Genetic Predisposition to Disease ; Humans ; Hypertension/complications ; Hypertriglyceridemia/complications ; Male ; Middle Aged ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Relevance of sperm imprinted gene methylation on assisted reproductive technique outcomes and pregnancy loss: a systematic review.
Autorzy:
Cannarella R; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Crafa A; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Condorelli RA; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Mongioì LM; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
La Vignera S; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Calogero AE; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
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Źródło:
Systems biology in reproductive medicine [Syst Biol Reprod Med] 2021 Aug; Vol. 67 (4), pp. 251-259. Date of Electronic Publication: 2021 Jun 03.
Typ publikacji:
Journal Article; Systematic Review
MeSH Terms:
Abortion, Habitual*/genetics
RNA, Long Noncoding*/metabolism
DNA Methylation ; Female ; Genomic Imprinting ; Humans ; KCNQ1 Potassium Channel/genetics ; KCNQ1 Potassium Channel/metabolism ; Male ; Pregnancy ; Reproductive Techniques, Assisted ; Spermatozoa/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Association of KCNQ1rs2237892C⟶T Gene with Type 2 Diabetes Mellitus: A Meta-Analysis.
Autorzy:
Han WJ; School of Dentistry, Anhui Medical University, Hefei, Anhui 230032, China.
Deng JY; Clinical Medical College, Anhui Medical University, Hefei, Anhui 230032, China.
Jin H; Inner Mongolia University For Nationalities, Affiliated Hospital, Nationalities, 028000, China.
Yin LP; Medical Examination Center, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China.
Yang JX; Health Management College, Anhui Medical University, Hefei, Anhui 230032, China.
Sun JJ; Health Management College, Anhui Medical University, Hefei, Anhui 230032, China.
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Źródło:
Journal of diabetes research [J Diabetes Res] 2021 Nov 22; Vol. 2021, pp. 6606830. Date of Electronic Publication: 2021 Nov 22 (Print Publication: 2021).
Typ publikacji:
Journal Article; Meta-Analysis; Review
MeSH Terms:
Polymorphism, Single Nucleotide*
Diabetes Mellitus, Type 2/*genetics
KCNQ1 Potassium Channel/*genetics
Aged ; Case-Control Studies ; Diabetes Mellitus, Type 2/diagnosis ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Phenotype ; Risk Assessment ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Synergistic effect between the KCNQ1 haplotype and alcohol consumption on the development of type 2 diabetes mellitus in Korean cohorts.
Autorzy:
Park JY; Division of Endocrine and Kidney Disease Research, Department of Chronic Disease Convergence Research, Korea National Institute of Health, Korea Disease Control and Prevention Agency, 187 Osongsaengmyeong 2-ro, Osong-eup, Cheongju-si, Chungcheongbuk-do, 28159, Republic of Korea.
Yoo MG; Division of Endocrine and Kidney Disease Research, Department of Chronic Disease Convergence Research, Korea National Institute of Health, Korea Disease Control and Prevention Agency, 187 Osongsaengmyeong 2-ro, Osong-eup, Cheongju-si, Chungcheongbuk-do, 28159, Republic of Korea.
Yun JH; Division of Endocrine and Kidney Disease Research, Department of Chronic Disease Convergence Research, Korea National Institute of Health, Korea Disease Control and Prevention Agency, 187 Osongsaengmyeong 2-ro, Osong-eup, Cheongju-si, Chungcheongbuk-do, 28159, Republic of Korea.
Lee HJ; Division of Endocrine and Kidney Disease Research, Department of Chronic Disease Convergence Research, Korea National Institute of Health, Korea Disease Control and Prevention Agency, 187 Osongsaengmyeong 2-ro, Osong-eup, Cheongju-si, Chungcheongbuk-do, 28159, Republic of Korea. .
Park SI; Division of Endocrine and Kidney Disease Research, Department of Chronic Disease Convergence Research, Korea National Institute of Health, Korea Disease Control and Prevention Agency, 187 Osongsaengmyeong 2-ro, Osong-eup, Cheongju-si, Chungcheongbuk-do, 28159, Republic of Korea. .
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Źródło:
Scientific reports [Sci Rep] 2021 Nov 08; Vol. 11 (1), pp. 21796. Date of Electronic Publication: 2021 Nov 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alcohol Drinking/*adverse effects
Diabetes Mellitus, Type 2/*etiology
KCNQ1 Potassium Channel/*genetics
Alcoholism/complications ; Alleles ; Blood Glucose/analysis ; Diabetes Mellitus, Type 2/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Haplotypes/genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Republic of Korea
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness.
Autorzy:
Oertli A; Institute for Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, 35037 Marburg, Germany.
Rinné S; Institute for Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, 35037 Marburg, Germany.
Moss R; Institute for Experimental Cardiovascular Medicine, University Heart Center Freiburg-Bad Krozingen, Medical Center-University of Freiburg, 79110 Freiburg, Germany.; Faculty of Medicine, University of Freiburg, 79110 Freiburg, Germany.
Kääb S; Department of Medicine I, University Hospital, LMU Munich, 80336 Munich, Germany.; Deutsches Zentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Munich, 80636 Munich, Germany.
Seemann G; Institute for Experimental Cardiovascular Medicine, University Heart Center Freiburg-Bad Krozingen, Medical Center-University of Freiburg, 79110 Freiburg, Germany.; Faculty of Medicine, University of Freiburg, 79110 Freiburg, Germany.
Beckmann BM; Department of Medicine I, University Hospital, LMU Munich, 80336 Munich, Germany.; Institut für Rechtsmedizin, Forensische Molekularpathologie, Universitätsklinikum Frankfurt, 60590 Frankfurt, Germany.
Decher N; Institute for Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, 35037 Marburg, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jan 23; Vol. 22 (3). Date of Electronic Publication: 2021 Jan 23.
Typ publikacji:
Journal Article
MeSH Terms:
KCNQ1 Potassium Channel/*genetics
KCNQ1 Potassium Channel/*metabolism
Romano-Ward Syndrome/*genetics
Action Potentials ; Animals ; Deafness/genetics ; Female ; Genes, Recessive ; Heterozygote ; Homozygote ; Humans ; Male ; Mutation ; Oocytes/physiology ; Patch-Clamp Techniques ; Pedigree ; Potassium Channels, Voltage-Gated/genetics ; Potassium Channels, Voltage-Gated/metabolism ; Romano-Ward Syndrome/etiology ; Xenopus laevis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.
Autorzy:
Eggermann T; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. .
Begemann M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.
Pfeiffer L; MVZ Medicover Humangenetik Berlin Lichtenberg, Berlin, Germany.
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2021 Feb 04; Vol. 13 (1), pp. 30. Date of Electronic Publication: 2021 Feb 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Beckwith-Wiedemann Syndrome/*genetics
Genomic Imprinting/*genetics
Insulin-Like Growth Factor II/*genetics
KCNQ1 Potassium Channel/*genetics
Silver-Russell Syndrome/*genetics
Adult ; Alleles ; DNA Methylation ; Female ; Heterozygote ; Humans ; Male ; Matricaria/genetics ; Pedigree ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 21-40 z 1221

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