المؤلفون: Sun Q; State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing 10005, China., Sui Y; School of Life Sciences, Chongqing University; Chongqing 401331, China., Li S; School of Life Sciences, Chongqing University; Chongqing 401331, China., Zhou R; School of Life Sciences, Chongqing University; Chongqing 401331, China., Fu Z; School of Life Sciences, Chongqing University; Chongqing 401331, China., Luo J; School of Life Sciences, Chongqing University; Chongqing 401331, China., Zhao W; School of Life Sciences, Chongqing University; Chongqing 401331, China. Electronic address: zhaowenhui@cqu.edu.cn.

المصدر: Life sciences [Life Sci] 2024 Sep 15; Vol. 353, pp. 122912. Date of Electronic Publication: 2024 Jul 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375521 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0631 (Electronic) Linking ISSN: 00243205 NLM ISO Abbreviation: Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Ubiquitin-Protein Ligases*/metabolism , Ubiquitin-Protein Ligases*/genetics , Ubiquitination* , DNA Damage* , Minichromosome Maintenance Complex Component 7*/metabolism , Minichromosome Maintenance Complex Component 7*/genetics , DNA-Binding Proteins*/metabolism , DNA-Binding Proteins*/genetics , DNA Replication*, Humans ; BRCA1 Protein/metabolism ; BRCA1 Protein/genetics ; HEK293 Cells ; DNA Repair ; HeLa Cells

المؤلفون: Wei Y; Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, 107 Wenhua Xi Road, Ji'nan, 250012, Shandong, China., Chen Z; Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, 107 Wenhua Xi Road, Ji'nan, 250012, Shandong, China., Li Y; Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Medical Integration and Practice Center, Cheeloo College of Medicine, Shandong University, Ji'nan, 250012, Shandong, China. sduliyingwei@126.com., Song K; Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, 107 Wenhua Xi Road, Ji'nan, 250012, Shandong, China. songkun2001226@sdu.edu.cn.

المصدر: Oncogene [Oncogene] 2024 May; Vol. 43 (20), pp. 1565-1578. Date of Electronic Publication: 2024 Apr 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8711562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5594 (Electronic) Linking ISSN: 09509232 NLM ISO Abbreviation: Oncogene Subsets: MEDLINE

مواضيع طبية MeSH: Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/pathology , Ovarian Neoplasms*/metabolism , Introns*/genetics , Minichromosome Maintenance Complex Component 7*/genetics , Minichromosome Maintenance Complex Component 7*/metabolism , Disease Progression* , Cell Proliferation*/genetics , Gene Expression Regulation, Neoplastic*, Humans ; Female ; Animals ; Cell Line, Tumor ; Mice ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; Prognosis ; Forkhead Box Protein M1/genetics ; Forkhead Box Protein M1/metabolism ; Mice, Nude ; Alternative Splicing/genetics

المؤلفون: Polo Rivera C; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, DD1 5EH, UK., Deegan TD; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, DD1 5EH, UK. t.deegan@ed.ac.uk.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. t.deegan@ed.ac.uk., Labib KPM; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, DD1 5EH, UK. kpmlabib@dundee.ac.uk.

المصدر: The EMBO journal [EMBO J] 2024 Sep; Vol. 43 (18), pp. 3818-3845. Date of Electronic Publication: 2024 Jul 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

مواضيع طبية MeSH: Saccharomyces cerevisiae Proteins*/metabolism , Saccharomyces cerevisiae Proteins*/genetics , Saccharomyces cerevisiae*/metabolism , Saccharomyces cerevisiae*/genetics , DNA Helicases*/metabolism , DNA Helicases*/genetics, Ubiquitination ; Minichromosome Maintenance Complex Component 7/metabolism ; Minichromosome Maintenance Complex Component 7/genetics ; DNA Replication ; Minichromosome Maintenance Proteins/metabolism ; Minichromosome Maintenance Proteins/genetics ; Cell Cycle Proteins/metabolism ; Cell Cycle Proteins/genetics ; F-Box Proteins

المؤلفون: Shi Q; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China.; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Xu G; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China.; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Jiang Y; Department of Oncology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China., Yang J; The Comprehensive Cancer Centre of Drum Tower Hospital, Medical School of Nanjing University and Clinical Cancer Institute of Nanjing University, Nanjing, P.R. China., Han X; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Wang Q; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Li Y; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China.; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Zhang Z; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China., Wang K; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China., Peng H; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Chen F; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Ma Y; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Zhao L; Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, P.R. China., Chen Y; Department of Pathology, The people's Hospital of Suzhou National Hi-Tech District, Suzhou, P.R. China., Liu Z; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China., Yang L; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China., Jia X; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China., Wen T; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China., Tong Z; Department of Respiratory and Critical Care Medicine, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China., Cui X; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China.; Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, P.R. China., Li F; Medical Research Center and Department of Pathology, Beijing Institute of Respiratory Medicine and Beijing Chao-Yang Hospital, Capital Medical University, Beijing, P.R. China.; Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, The First Affiliated Hospital, Shihezi University School of Medicine, Shihezi, P.R. China.

المصدر: Cancer research [Cancer Res] 2024 Feb 15; Vol. 84 (4), pp. 560-576.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Esophageal Neoplasms*/pathology , Esophageal Squamous Cell Carcinoma*/metabolism , MicroRNAs*/genetics , MicroRNAs*/metabolism, Humans ; Phosphorylation ; Protein Kinase C-alpha/metabolism ; Cell Line, Tumor ; Phosphoinositide Phospholipase C/genetics ; Phosphoinositide Phospholipase C/metabolism ; Gene Expression Regulation, Neoplastic ; Cell Proliferation ; Minichromosome Maintenance Complex Component 7/genetics ; Minichromosome Maintenance Complex Component 7/metabolism

المؤلفون: Wang J; Division of Life Science, Center for Cancer Research and State Key Lab for Molecular Neuroscience, Hong Kong University of Science and Technology, Hong Kong, China., Amin A; Division of Life Science, Center for Cancer Research and State Key Lab for Molecular Neuroscience, Hong Kong University of Science and Technology, Hong Kong, China., Cheung MH; Division of Life Science, Center for Cancer Research and State Key Lab for Molecular Neuroscience, Hong Kong University of Science and Technology, Hong Kong, China., Shi L; Division of Life Science, Center for Cancer Research and State Key Lab for Molecular Neuroscience, Hong Kong University of Science and Technology, Hong Kong, China., Liang C; Division of Life Science, Center for Cancer Research and State Key Lab for Molecular Neuroscience, Hong Kong University of Science and Technology, Hong Kong, China; EnKang Pharmaceuticals (Guangzhou), Ltd., Guangzhou, China. Electronic address: bccliang@ust.hk.

المصدر: Cancer letters [Cancer Lett] 2022 Jul 28; Vol. 539, pp. 215677. Date of Electronic Publication: 2022 Apr 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Ireland Country of Publication: Ireland NLM ID: 7600053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7980 (Electronic) Linking ISSN: 03043835 NLM ISO Abbreviation: Cancer Lett Subsets: MEDLINE

مواضيع طبية MeSH: Carcinoma, Hepatocellular*/genetics , Cell Cycle Proteins*/antagonists & inhibitors , Cell Cycle Proteins*/biosynthesis , Cell Cycle Proteins*/genetics , Cell Cycle Proteins*/metabolism , DNA Replication* , Liver Neoplasms*/drug therapy , Liver Neoplasms*/genetics , MicroRNAs*/genetics , MicroRNAs*/metabolism , Minichromosome Maintenance Complex Component 7*/genetics, Animals ; Carcinogenesis/genetics ; Hep G2 Cells ; Humans ; Mice ; Mice, Nude ; RNA, Messenger ; Xenograft Model Antitumor Assays

المؤلفون: Su D; Department of Infectious Diseases, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, China.

المصدر: Immunopharmacology and immunotoxicology [Immunopharmacol Immunotoxicol] 2022 Feb; Vol. 44 (1), pp. 17-27. Date of Electronic Publication: 2021 Nov 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8800150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2513 (Electronic) Linking ISSN: 08923973 NLM ISO Abbreviation: Immunopharmacol Immunotoxicol Subsets: MEDLINE

مواضيع طبية MeSH: Cisplatin*/pharmacology , Liver Neoplasms*/drug therapy , Minichromosome Maintenance Complex Component 7*/genetics , Minichromosome Maintenance Complex Component 7*/metabolism , Signal Transduction*, Drug Resistance, Neoplasm/*genetics, Apoptosis ; Cell Line ; Cell Line, Tumor ; Cell Proliferation ; Gene Expression Regulation, Neoplastic ; Humans ; Phosphatidylinositol 3-Kinases/metabolism ; Proto-Oncogene Proteins c-akt/metabolism

المؤلفون: Ahammad F; Department of Biological Science, Faculty of science, King Abdul-Aziz University, Jeddah-21589, Saudi Arabia.; Laboratory of Computational Biology, Biological Solution Centre (BioSol Centre), Jashore-7408, Bangladesh.; Department of Genetic Engineering and Biotechnology, Faculty of Biological Science and Technology, Jashore University and Science and Technology University, Jashore-7408, Bangladesh., Alam R; Laboratory of Computational Biology, Biological Solution Centre (BioSol Centre), Jashore-7408, Bangladesh.; Department of Genetic Engineering and Biotechnology, Faculty of Biological Science and Technology, Jashore University and Science and Technology University, Jashore-7408, Bangladesh., Mahmud R; Department of Pharmacy, Mawlana Bhashani Science and Technology University, Tangail-1902, Bangladesh., Akhter S; Laboratory of Computational Biology, Biological Solution Centre (BioSol Centre), Jashore-7408, Bangladesh.; Department of Biochemistry and Biotechnology, University of Science and Technology Chittagong (USTC) Block # D, Floor # 11, Foy's Lake, Khulshi, Chittagong 4202, Bangladesh., Talukder EK; Laboratory of Computational Biology, Biological Solution Centre (BioSol Centre), Jashore-7408, Bangladesh.; Department of Genetic Engineering and Biotechnology, Faculty of Biological Science and Technology, Jashore University and Science and Technology University, Jashore-7408, Bangladesh., Tonmoy AM; Laboratory of Computational Biology, Biological Solution Centre (BioSol Centre), Jashore-7408, Bangladesh.; Department of Zoology, Institute of Dhaka College, University of Dhaka, Dhaka-1000, Bangladesh., Fahim S; Laboratory of Computational Biology, Biological Solution Centre (BioSol Centre), Jashore-7408, Bangladesh.; Bachelor of medicine and Bachelor of Surgery (MBBS), CARe Medical College, 2, 1-A Iqbal Road, Dhaka-1207, Bangladesh., Al-Ghamdi K; Department of Biological Science, Faculty of science, King Abdul-Aziz University, Jeddah-21589, Saudi Arabia., Samad A; Laboratory of Computational Biology, Biological Solution Centre (BioSol Centre), Jashore-7408, Bangladesh.; Department of Genetic Engineering and Biotechnology, Faculty of Biological Science and Technology, Jashore University and Science and Technology University, Jashore-7408, Bangladesh., Qadri I; Department of Biological Science, Faculty of science, King Abdul-Aziz University, Jeddah-21589, Saudi Arabia.

المصدر: Briefings in bioinformatics [Brief Bioinform] 2021 Sep 02; Vol. 22 (5).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Dynamics Simulation*, Azadirachta/*chemistry , Informatics/*methods , Minichromosome Maintenance Complex Component 7/*antagonists & inhibitors , Neoplasms/*drug therapy , Phytochemicals/*therapeutic use, Algorithms ; Binding Sites ; Early Detection of Cancer ; Humans ; Ligands ; Minichromosome Maintenance Complex Component 7/chemistry ; Minichromosome Maintenance Complex Component 7/metabolism ; Molecular Docking Simulation ; Molecular Targeted Therapy/methods ; Neoplasms/diagnosis ; Neoplasms/metabolism ; Phytochemicals/isolation & purification ; Phytochemicals/pharmacology ; Plants, Medicinal/chemistry ; Protein Binding ; Protein Domains ; Thermodynamics

المؤلفون: Zhao M; Department of Medical Oncology, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Wang Y; Department of Medical Oncology, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Jiang C; Cancer Neurobiology Group, School of Biomedical Sciences & Pharmacy, The University of Newcastle, Callaghan, NSW 2308, Australia; School of Medicine & Public Health, The University of Newcastle, Callaghan, NSW 2308, Australia., Wang Q; Department of Network Information Center, Bengbu Medical College, Bengbu 233004, Anhui, PR China., Mi J; Department of Medical Oncology, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Zhang Y; Department of Medical Oncology, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Zuo L; Department of Gastrointestinal Surgery, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Geng Z; Department of Central Laboratory, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Song X; Department of Central Laboratory, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Ge S; Department of Gastrointestinal Surgery, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Li J; Department of Clinical Laboratory, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Wen H; Department of Gastrointestinal Surgery, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Wang J; Department of Medical Oncology, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China., Wang Z; Department of Medical Oncology, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China. Electronic address: wangzishu@bbmc.edu.cn., Su F; Department of Medical Oncology, First Affiliated Hospital of Bengbu Medical College, Bengbu 233004, Anhui, PR China. Electronic address: sufang@bbmc.edu.cn.

المصدر: Biochemical pharmacology [Biochem Pharmacol] 2021 Aug; Vol. 190, pp. 114610. Date of Electronic Publication: 2021 May 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 0101032 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2968 (Electronic) Linking ISSN: 00062952 NLM ISO Abbreviation: Biochem Pharmacol Subsets: MEDLINE

مواضيع طبية MeSH: Apoptosis/*physiology , Cell Proliferation/*physiology , Colorectal Neoplasms/*metabolism , MicroRNAs/*biosynthesis , Minichromosome Maintenance Complex Component 7/*biosynthesis , p21-Activated Kinases/*biosynthesis, Animals ; Biomarkers, Tumor/biosynthesis ; Biomarkers, Tumor/genetics ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/pathology ; Female ; HT29 Cells ; Humans ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; MicroRNAs/genetics ; Minichromosome Maintenance Complex Component 7/genetics ; Signal Transduction/physiology ; Xenograft Model Antitumor Assays/methods ; p21-Activated Kinases/genetics

المؤلفون: Rubisz P; Gynecological Surgery, Endometriosis Treatment Center, Medicus Hospital, 50-224 Wroclaw, Poland., Hirnle L; First Department of Gynecology and Obstetrics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Kobierzycki C; Division of Histology and Embryology, Department of Histology and Human Morphology, Wroclaw Medical University, 50-368 Wroclaw, Poland.

المصدر: Current issues in molecular biology [Curr Issues Mol Biol] 2021 Jul 25; Vol. 43 (2), pp. 802-817. Date of Electronic Publication: 2021 Jul 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100931761 Publication Model: Electronic Cited Medium: Internet ISSN: 1467-3045 (Electronic) Linking ISSN: 14673037 NLM ISO Abbreviation: Curr Issues Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cell Cycle Proteins/*biosynthesis , Leiomyoma/*metabolism , Minichromosome Maintenance Complex Component 3/*biosynthesis , Minichromosome Maintenance Complex Component 7/*biosynthesis , Uterine Neoplasms/*metabolism, Adult ; Aged ; Biomarkers, Tumor/metabolism ; Cell Cycle Proteins/metabolism ; Estrogen Receptor alpha/metabolism ; Female ; Humans ; Immunohistochemistry ; Leiomyoma/pathology ; Middle Aged ; Minichromosome Maintenance Complex Component 3/metabolism ; Minichromosome Maintenance Complex Component 7/metabolism ; Pregnancy ; Receptors, Progesterone/metabolism ; Uterine Neoplasms/pathology

المؤلفون: Knapp KM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Jenkins DE; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Sullivan R; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., de Munnik S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Murray J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; South East Scotland Clinical Genetics Service, NHS Lothian, Western General Hospital, Edinburgh, UK., Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.; Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bicknell LS; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. louise.bicknell@otago.ac.nz.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1110-1120. Date of Electronic Publication: 2021 Mar 02.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Insufficiency/*diagnosis , Adrenal Insufficiency/*genetics , Congenital Microtia/*diagnosis , Congenital Microtia/*genetics , Growth Disorders/*diagnosis , Growth Disorders/*genetics , Lipodystrophy/*diagnosis , Lipodystrophy/*genetics , Micrognathism/*diagnosis , Micrognathism/*genetics , Minichromosome Maintenance Complex Component 3/*genetics , Minichromosome Maintenance Complex Component 7/*genetics , Patella/*abnormalities, Adolescent ; Alleles ; Amino Acid Sequence ; Cell Cycle/genetics ; Child ; Child, Preschool ; Facies ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Humans ; Infant ; Male ; Minichromosome Maintenance Complex Component 3/chemistry ; Minichromosome Maintenance Complex Component 7/chemistry ; Models, Molecular ; New Zealand ; Phenotype ; Protein Conformation

SCR Disease Name: Meier-Gorlin syndrome