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Tytuł:
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Autorzy:
Wang Y; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Hao X; Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China.
Jia X; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Ji W; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Yuan S; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Gnamey EJA; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Huang M; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Xu L; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Zhang X; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Bai J; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Sun W; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Fu S; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
Liu Y; Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China.
Wu J; Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jul; Vol. 10 (7), pp. e1968. Date of Electronic Publication: 2022 May 12.
Typ publikacji:
Journal Article
MeSH Terms:
Nerve Tissue Proteins*/genetics
Polydactyly*/genetics
Zinc Finger Protein Gli3*/genetics
Fingers/abnormalities ; Humans ; Pedigree ; Phenotype ; Toes/abnormalities
SCR Disease Name:
Polydactyly, Postaxial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long non-coding RNA SLC2A1-AS1 induced by GLI3 promotes aerobic glycolysis and progression in esophageal squamous cell carcinoma by sponging miR-378a-3p to enhance Glut1 expression.
Autorzy:
Liu H; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China. .
Zhang Q; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.; Translational Medicine Research Center, Zhengzhou People's Hospital, Zhengzhou, 450003, Henan, China.
Song Y; Translational Medicine Research Center, Zhengzhou People's Hospital, Zhengzhou, 450003, Henan, China.
Hao Y; Translational Medicine Research Center, Zhengzhou People's Hospital, Zhengzhou, 450003, Henan, China.
Cui Y; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Zhang X; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Zhang X; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Qin Y; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Zhu G; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Wang F; Institute of Genomic Medicine, College of Pharmacy, Jinan University, Guangzhou, 510632, Guangdong, China.; International Cooperative Laboratory of Traditional Chinese Medicine Modernization and Innovative Drug Development of Chinese Ministry of Education (MOE), College of pharmacy, Jinan University, Guangzhou, 510632, Guangdong, China.
Dang J; Department of Clinical Medicine, Zhengzhou University, Zhengzhou, 450052, Henan, China.
Ma S; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Zhang Y; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Guo W; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China.
Li S; Department of Pathology, the First Affiliated Hospital of Zhengzhou University, 40 Daxue Road, Zhengzhou, 450052, Henan, China. .
Guan F; School of Life Sciences, Zhengzhou University, Zhengzhou, 450001, Henan, China. .
Fan T; Department of Pharmacology, School of Basic Medicine, Zhengzhou University, 100 Kexue Road, Zhengzhou, 450001, Henan, China. .
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Źródło:
Journal of experimental & clinical cancer research : CR [J Exp Clin Cancer Res] 2021 Sep 13; Vol. 40 (1), pp. 287. Date of Electronic Publication: 2021 Sep 13.
Typ publikacji:
Journal Article; Retracted Publication
MeSH Terms:
Esophageal Neoplasms/*metabolism
Esophageal Squamous Cell Carcinoma/*metabolism
Glucose Transporter Type 1/*biosynthesis
Glycolysis/*genetics
MicroRNAs/*metabolism
Nerve Tissue Proteins/*metabolism
RNA, Long Noncoding/*metabolism
Zinc Finger Protein Gli3/*metabolism
Animals ; Cell Line, Tumor ; Cell Proliferation/physiology ; Disease Progression ; Esophageal Neoplasms/genetics ; Esophageal Neoplasms/pathology ; Esophageal Squamous Cell Carcinoma/genetics ; Esophageal Squamous Cell Carcinoma/pathology ; Female ; Heterografts ; Humans ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; MicroRNAs/genetics ; Nerve Tissue Proteins/genetics ; Prognosis ; Zinc Finger Protein Gli3/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
GLI3 Promotes Invasion and Predicts Poor Prognosis in Colorectal Cancer.
Autorzy:
Shen M; Department of Vascular Surgery, Huai'an First People's Hospital Affiliated to Nanjing Medical University, Huai'an, Jiangsu, China.
Zhang Z; Department of Gastrointestinal Surgery, Huai'an First People's Hospital Affiliated to Nanjing Medical University, Huai'an, Jiangsu, China.
Wang P; Department of Vascular Surgery, Huai'an First People's Hospital Affiliated to Nanjing Medical University, Huai'an, Jiangsu, China.
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Źródło:
BioMed research international [Biomed Res Int] 2021 Jan 09; Vol. 2021, pp. 8889986. Date of Electronic Publication: 2021 Jan 09 (Print Publication: 2021).
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/metabolism
Colorectal Neoplasms*/mortality
Colorectal Neoplasms*/pathology
Nerve Tissue Proteins*/genetics
Nerve Tissue Proteins*/metabolism
Zinc Finger Protein Gli3*/genetics
Zinc Finger Protein Gli3*/metabolism
Cell Line, Tumor ; Epithelial-Mesenchymal Transition/genetics ; Gene Knockdown Techniques ; Humans ; Neoplasm Invasiveness/genetics ; Prognosis ; Protein Interaction Maps/genetics ; Transcriptome/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
GANT61 and Lithium Chloride Inhibit the Growth of Head and Neck Cancer Cell Lines Through the Regulation of GLI3 Processing by GSK3β.
Autorzy:
Zubčić V; Department of Maxillofacial Surgery, University Hospital Osijek, Ulica Josipa Huttlera 4, Osijek 31000, Croatia.; School of Medicine, The Josip Juraj Strossmayer University of Osijek, Trg Svetog Trojstva 3, Osijek 31000, Croatia.
Rinčić N; Laboratory for Hereditary Cancer, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička cesta 54, Zagreb 10000, Croatia.
Kurtović M; Laboratory for Hereditary Cancer, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička cesta 54, Zagreb 10000, Croatia.
Trnski D; Laboratory for Hereditary Cancer, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička cesta 54, Zagreb 10000, Croatia.
Musani V; Laboratory for Hereditary Cancer, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička cesta 54, Zagreb 10000, Croatia.
Ozretić P; Laboratory for Hereditary Cancer, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička cesta 54, Zagreb 10000, Croatia.
Levanat S; Laboratory for Hereditary Cancer, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička cesta 54, Zagreb 10000, Croatia.
Leović D; School of Medicine, The Josip Juraj Strossmayer University of Osijek, Trg Svetog Trojstva 3, Osijek 31000, Croatia.; Department of Otorhinolaryngology and Head and Neck Surgery, Maxillofacial Surgery Unit, Clinical Hospital Centre Zagreb, Kišpatićeva ulica 12, Zagreb 10000, Croatia.
Sabol M; Laboratory for Hereditary Cancer, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička cesta 54, Zagreb 10000, Croatia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Sep 03; Vol. 21 (17). Date of Electronic Publication: 2020 Sep 03.
Typ publikacji:
Journal Article
MeSH Terms:
Biomarkers, Tumor/*metabolism
Gene Expression Regulation, Neoplastic/*drug effects
Glycogen Synthase Kinase 3 beta/*metabolism
Head and Neck Neoplasms/*drug therapy
Lithium Chloride/*pharmacology
Nerve Tissue Proteins/*metabolism
Pyridines/*pharmacology
Pyrimidines/*pharmacology
Zinc Finger Protein Gli3/*metabolism
Antimanic Agents/pharmacology ; Apoptosis ; Biomarkers, Tumor/genetics ; Cell Proliferation ; Glycogen Synthase Kinase 3 beta/genetics ; Head and Neck Neoplasms/metabolism ; Head and Neck Neoplasms/pathology ; Humans ; Nerve Tissue Proteins/antagonists & inhibitors ; Nerve Tissue Proteins/genetics ; Tumor Cells, Cultured ; Zinc Finger Protein Gli3/antagonists & inhibitors ; Zinc Finger Protein Gli3/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Downregulation of GLI3 Expression Mediates Chemotherapy Resistance in Acute Myeloid Leukemia.
Autorzy:
Freisleben F; Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Behrmann L; Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Thaden V; Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Muschhammer J; Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Bokemeyer C; Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Fiedler W; Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Wellbrock J; Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Jul 18; Vol. 21 (14). Date of Electronic Publication: 2020 Jul 18.
Typ publikacji:
Journal Article
MeSH Terms:
Apoptosis/*genetics
Cytarabine/*pharmacology
Drug Resistance, Neoplasm/*genetics
Leukemia, Myeloid, Acute/*metabolism
Nerve Tissue Proteins/*metabolism
Signal Transduction/*genetics
Zinc Finger Protein Gli3/*metabolism
ATP-Binding Cassette Transporters/genetics ; ATP-Binding Cassette Transporters/metabolism ; Apoptosis/drug effects ; Cell Line, Tumor ; Cytarabine/metabolism ; Cytidine Deaminase/genetics ; Cytidine Deaminase/metabolism ; Down-Regulation ; Gene Knockdown Techniques ; Gene Silencing ; Humans ; Leukemia, Myeloid, Acute/genetics ; Nerve Tissue Proteins/genetics ; SAM Domain and HD Domain-Containing Protein 1/genetics ; SAM Domain and HD Domain-Containing Protein 1/metabolism ; Signal Transduction/drug effects ; Zinc Finger Protein Gli3/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.
Autorzy:
Zhang L; Department of Hand and Foot Surgery, Shandong provincial Hospital Affiliated to Shandong University, Jinan, China.
Chen X; Department of Hand and Foot Surgery, Shandong provincial Hospital Affiliated to Shandong University, Jinan, China.
Xu L; Department of Hand and Foot Surgery, Shandong provincial Hospital Affiliated to Shandong University, Jinan, China.
Guan S; Department of Hand and Foot Surgery, Shandong provincial Hospital Affiliated to Shandong University, Jinan, China.
Wang D; Department of Hand and Foot Surgery, Shandong provincial Hospital Affiliated to Shandong University, Jinan, China.
Lin Y; Center Laboratory, Shandong provincial Hospital Affiliated to Shandong University, Jinan, China.
Wang Z; Department of Hand and Foot Surgery, Shandong provincial Hospital Affiliated to Shandong University, Jinan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jun; Vol. 8 (6), pp. e1223. Date of Electronic Publication: 2020 Apr 06.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Frameshift Mutation*
Nerve Tissue Proteins/*genetics
Receptors, G-Protein-Coupled/*genetics
Syndactyly/*genetics
Zinc Finger Protein Gli3/*genetics
Adult ; Female ; HEK293 Cells ; Humans ; Infant ; Male ; Middle Aged ; Nerve Tissue Proteins/metabolism ; Pedigree ; Receptors, G-Protein-Coupled/metabolism ; Syndactyly/pathology ; Zinc Finger Protein Gli3/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
GLI3: a mediator of genetic diseases, development and cancer.
Autorzy:
Matissek SJ; Department of Molecular, Cellular and Biomedical Sciences, University of New Hampshire, 46 College Rd Rudman 291, Durham, NH, 03824, USA.
Elsawa SF; Department of Molecular, Cellular and Biomedical Sciences, University of New Hampshire, 46 College Rd Rudman 291, Durham, NH, 03824, USA. .
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Źródło:
Cell communication and signaling : CCS [Cell Commun Signal] 2020 Apr 03; Vol. 18 (1), pp. 54. Date of Electronic Publication: 2020 Apr 03.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Review; Video-Audio Media
MeSH Terms:
Neoplasms*/genetics
Neoplasms*/metabolism
Nerve Tissue Proteins*/genetics
Nerve Tissue Proteins*/physiology
Organogenesis*
Zinc Finger Protein Gli3*/genetics
Zinc Finger Protein Gli3*/physiology
Genetic Diseases, Inborn/*metabolism
Immune System/*metabolism
Animals ; Humans ; Mice
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
Autorzy:
Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Wasif N; Institut für Human Genetik, Ulm Universität, Ulm, Germany.
Albalawi AM; Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.
Ramzan K; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), Riyadh, Saudi Arabia.
Ahmad W; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
Basit S; Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00627. Date of Electronic Publication: 2019 May 21.
Typ publikacji:
Journal Article
MeSH Terms:
Fingers/*abnormalities
Nerve Tissue Proteins/*genetics
Polydactyly/*pathology
Toes/*abnormalities
Zinc Finger Protein Gli3/*genetics
Exome/genetics ; Female ; Fingers/pathology ; Frameshift Mutation ; Heterozygote ; Humans ; Loss of Function Mutation ; Male ; Nerve Tissue Proteins/chemistry ; Nerve Tissue Proteins/metabolism ; Pedigree ; Polydactyly/genetics ; Toes/pathology ; Exome Sequencing ; Zinc Finger Protein Gli3/chemistry ; Zinc Finger Protein Gli3/metabolism
SCR Disease Name:
Polydactyly, Postaxial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
GLI3 resides at the intersection of hedgehog and androgen action to promote male sex differentiation.
Autorzy:
Kothandapani A; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Lewis SR; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Noel JL; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Zacharski A; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Krellwitz K; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Baines A; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Winske S; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Vezina CM; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
Kaftanovskaya EM; Department of Human and Molecular Genetics, Florida International University, Miami, Florida, United States of America.
Agoulnik AI; Department of Human and Molecular Genetics, Florida International University, Miami, Florida, United States of America.
Merton EM; Molecular Genetics and Microbiology, University of Florida, Gainesville, Florida, United States of America.
Cohn MJ; Molecular Genetics and Microbiology, University of Florida, Gainesville, Florida, United States of America.
Jorgensen JS; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2020 Jun 04; Vol. 16 (6), pp. e1008810. Date of Electronic Publication: 2020 Jun 04 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Regulation, Developmental*
Cryptorchidism/*genetics
Leydig Cells/*pathology
Nerve Tissue Proteins/*metabolism
Sex Differentiation/*genetics
Zinc Finger Protein Gli3/*metabolism
Animals ; Cryptorchidism/pathology ; Disease Models, Animal ; Hedgehog Proteins/metabolism ; Humans ; Insulin/metabolism ; Leydig Cells/metabolism ; Male ; Mice ; Mice, Transgenic ; Mutation ; Nerve Tissue Proteins/genetics ; Proteins/metabolism ; Signal Transduction/genetics ; Testosterone/metabolism ; Zinc Finger Protein Gli3/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.
Autorzy:
Zou Q; Graduate College of Tianjin Medical University, Tianjin, China.
Tian Z; Department of Orthopaedics, Tianjin Children's Hospital, Tianjin, China.
Zheng J; Graduate College of Tianjin Medical University, Tianjin, China.
Zhi X; Graduate College of Tianjin Medical University, Tianjin, China.
Du X; Department of Orthopaedics, Tianjin Children's Hospital, Tianjin, China.
Shu J; Institute of Paediatrics, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin, China. .
Cai C; Department of Neurosurgery, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin, China. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2019 Nov 09; Vol. 20 (1), pp. 174. Date of Electronic Publication: 2019 Nov 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Zinc Fingers*
Fingers/*abnormalities
Nerve Tissue Proteins/*genetics
Polydactyly/*genetics
Toes/*abnormalities
Zinc Finger Protein Gli3/*genetics
Amino Acid Sequence ; Child, Preschool ; Humans ; Male ; Nerve Tissue Proteins/chemistry ; Pedigree ; Sequence Homology, Amino Acid ; Zinc Finger Protein Gli3/chemistry
SCR Disease Name:
Polydactyly, Postaxial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Autorzy:
Siavrienė E; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Mikštienė V; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Radzevičius D; The Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Maldžienė Ž; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Rančelis T; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Petraitytė G; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Tamulytė G; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Kavaliauskienė I; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Šarkinas L; The Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Utkus A; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Kučinskas V; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Preikšaitienė E; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Sep; Vol. 7 (9), pp. e878. Date of Electronic Publication: 2019 Jul 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Acrocephalosyndactylia/*genetics
Genetic Predisposition to Disease/*genetics
Nerve Tissue Proteins/*genetics
Zinc Finger Protein Gli3/*genetics
Acrocephalosyndactylia/diagnostic imaging ; Acrocephalosyndactylia/physiopathology ; Child ; DNA, Complementary ; Female ; Humans ; Middle Aged ; Mutation ; Nerve Tissue Proteins/metabolism ; Pedigree ; Phenotype ; Proteomics ; Sequence Analysis, DNA ; Transcriptome ; Zinc Finger Protein Gli3/metabolism
SCR Disease Name:
Greig cephalopolysyndactyly syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Elevated GLI3 expression in germinal center diffuse large B cell lymphoma.
Autorzy:
Han W; a Department of Molecular, Cellular and Biomedical Sciences , University of New Hampshire , Durham , NH , USA.
Ibarra G; b Department of Biological Sciences , Northern Illinois University , Dekalb , IL , USA.
Gupta M; c Department of Biochemistry and Molecular Medicine , George Washington University , Washington, DC , USA.
Yin Y; b Department of Biological Sciences , Northern Illinois University , Dekalb , IL , USA.
Elsawa SF; a Department of Molecular, Cellular and Biomedical Sciences , University of New Hampshire , Durham , NH , USA.
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Źródło:
Leukemia & lymphoma [Leuk Lymphoma] 2018 Nov; Vol. 59 (11), pp. 2743-2745. Date of Electronic Publication: 2018 Feb 21.
Typ publikacji:
Letter
MeSH Terms:
Biomarkers, Tumor/*metabolism
Germinal Center/*metabolism
Lymphoma, Large B-Cell, Diffuse/*metabolism
Nerve Tissue Proteins/*metabolism
Zinc Finger Protein Gli3/*metabolism
Biomarkers, Tumor/genetics ; Cell Proliferation ; Germinal Center/pathology ; Humans ; Lymphoma, Large B-Cell, Diffuse/genetics ; Lymphoma, Large B-Cell, Diffuse/pathology ; Nerve Tissue Proteins/antagonists & inhibitors ; Nerve Tissue Proteins/genetics ; Prognosis ; RNA, Small Interfering/genetics ; Tumor Cells, Cultured ; Zinc Finger Protein Gli3/antagonists & inhibitors ; Zinc Finger Protein Gli3/genetics
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Gli3 controls the onset of cortical neurogenesis by regulating the radial glial cell cycle through Cdk6 expression.
Autorzy:
Hasenpusch-Theil K; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK.
West S; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK.
Kelman A; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK.
Kozic Z; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK.
Horrocks S; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK.
McMahon AP; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad-CIRM Center for Regenerative Medicine and Stem Cell Research, W.M. Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Price DJ; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK.
Mason JO; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK.
Theil T; Centre for Discovery Brain Sciences, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, UK .
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Źródło:
Development (Cambridge, England) [Development] 2018 Aug 20; Vol. 145 (17). Date of Electronic Publication: 2018 Aug 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Cycle/*physiology
Cerebral Cortex/*embryology
Cyclin-Dependent Kinase 6/*biosynthesis
Gene Expression Regulation, Developmental/*physiology
Gene Expression Regulation, Enzymologic/*physiology
Nerve Tissue Proteins/*metabolism
Neurogenesis/*physiology
Neuroglia/*metabolism
Zinc Finger Protein Gli3/*metabolism
Animals ; Cerebral Cortex/cytology ; Cyclin-Dependent Kinase 6/genetics ; Female ; Mice ; Mice, Transgenic ; Nerve Tissue Proteins/genetics ; Neuroglia/cytology ; Zinc Finger Protein Gli3/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Autorzy:
Shen X; Soochow University, Suzhou, China.; Department of Orthopedics, Children's Hospital of Soochow University, Suzhou, China.
Zhang S; Department of Orthopedics, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.; Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Zhang X; Department of Clinical Research Unit, Tongji Hospital, Tongji University School of Medicine, Shanghai, China.
Zhou T; Department of Orthopedics, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.; Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Rui Y; Department of Orthopedics, Wuxi Ninth People's Hospital Affiliated to Soochow University, Wuxi, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Apr; Vol. 10 (4), pp. e1895. Date of Electronic Publication: 2022 Feb 26.
Typ publikacji:
Journal Article
MeSH Terms:
Limb Deformities, Congenital*
Polydactyly*/genetics
Syndactyly*/genetics
Animals ; Codon, Nonsense ; HEK293 Cells ; Hedgehog Proteins/genetics ; Hedgehog Proteins/metabolism ; Humans ; Mice ; Nerve Tissue Proteins/genetics ; Pedigree ; Zinc Finger Protein Gli3/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Combinatorial Gli activity directs immune infiltration and tumor growth in pancreatic cancer.
Autorzy:
Scales MK; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.
Velez-Delgado A; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.
Steele NG; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.
Schrader HE; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.
Stabnick AM; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.
Yan W; Department of Surgery, University of Michigan, Ann Arbor, Michigan, United States of America.
Mercado Soto NM; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.
Nwosu ZC; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, Michigan, United States of America.
Johnson C; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.
Zhang Y; Department of Surgery, University of Michigan, Ann Arbor, Michigan, United States of America.; Rogel Cancer Center, University of Michigan, Ann Arbor, Michigan, United States of America.
Salas-Escabillas DJ; Cancer Biology Program, University of Michigan, Ann Arbor, Michigan, United States of America.
Menjivar RE; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, United States of America.
Maurer HC; Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York city, New York, United States of America.; Internal Medicine II, School of Medicine, Technische Universität München, Munich, Germany.
Crawford HC; Department of Surgery, Henry Ford Health System, Detroit, Michigan, United States of America.
Bednar F; Department of Surgery, University of Michigan, Ann Arbor, Michigan, United States of America.; Rogel Cancer Center, University of Michigan, Ann Arbor, Michigan, United States of America.
Olive KP; Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York city, New York, United States of America.; Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York city, New York, United States of America.
Pasca di Magliano M; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.; Department of Surgery, University of Michigan, Ann Arbor, Michigan, United States of America.; Rogel Cancer Center, University of Michigan, Ann Arbor, Michigan, United States of America.
Allen BL; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States of America.; Rogel Cancer Center, University of Michigan, Ann Arbor, Michigan, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2022 Jul 22; Vol. 18 (7), pp. e1010315. Date of Electronic Publication: 2022 Jul 22 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Hedgehog Proteins*/genetics
Hedgehog Proteins*/metabolism
Pancreatic Neoplasms*/genetics
Adult ; Child ; Female ; Humans ; Kruppel-Like Transcription Factors/genetics ; Kruppel-Like Transcription Factors/metabolism ; Nerve Tissue Proteins/metabolism ; Pregnancy ; Zinc Finger Protein GLI1/genetics ; Zinc Finger Protein Gli2/genetics ; Zinc Finger Protein Gli3/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
GLI3 Is Required for OLIG2+ Progeny Production in Adult Dorsal Neural Stem Cells.
Autorzy:
Embalabala RJ; Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Brockman AA; Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Jurewicz AR; Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Kong JA; Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Ryan K; Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Guinto CD; Department of Neurological Surgery, University of California-San Francisco, San Francisco, CA 94143, USA.; Eli and Edythe Broad Institute of Regeneration Medicine, University of California-San Francisco, San Francisco, CA 94143, USA.
Álvarez-Buylla A; Department of Neurological Surgery, University of California-San Francisco, San Francisco, CA 94143, USA.; Eli and Edythe Broad Institute of Regeneration Medicine, University of California-San Francisco, San Francisco, CA 94143, USA.
Chiang C; Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Ihrie RA; Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.; Department of Neurological Surgery, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
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Źródło:
Cells [Cells] 2022 Jan 10; Vol. 11 (2). Date of Electronic Publication: 2022 Jan 10.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Adult Stem Cells/*metabolism
Nerve Tissue Proteins/*metabolism
Neural Stem Cells/*metabolism
Oligodendrocyte Transcription Factor 2/*metabolism
Zinc Finger Protein Gli3/*metabolism
Adult Stem Cells/cytology ; Animals ; Cell Differentiation ; Cells, Cultured ; Interneurons/metabolism ; Lateral Ventricles/metabolism ; Mice ; Neural Stem Cells/cytology ; Smoothened Receptor/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly.
Autorzy:
Sharma D; Department of Orthopedic Surgery, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Biomedical Genetics, University of Rochester School of Medicine, Rochester, New York, United States of America.
Mirando AJ; Department of Orthopedic Surgery, Duke University School of Medicine, Durham, North Carolina, United States of America.
Leinroth A; Department of Orthopedic Surgery, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Cell Biology, Duke University, Durham, North Carolina, United States of America.
Long JT; Department of Orthopedic Surgery, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Cell Biology, Duke University, Durham, North Carolina, United States of America.
Karner CM; Department of Orthopedic Surgery, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Cell Biology, Duke University, Durham, North Carolina, United States of America.
Hilton MJ; Department of Orthopedic Surgery, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Cell Biology, Duke University, Durham, North Carolina, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2021 Dec 20; Vol. 17 (12), pp. e1009982. Date of Electronic Publication: 2021 Dec 20 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Hedgehog Proteins/*genetics
Nerve Tissue Proteins/*genetics
PAX9 Transcription Factor/*genetics
Polydactyly/*genetics
Thumb/*abnormalities
Transcription Factor HES-1/*genetics
Zinc Finger Protein Gli3/*genetics
Animals ; Cell Division/genetics ; Cell Proliferation/genetics ; Chondrogenesis/genetics ; Chromatin/genetics ; Cyclin-Dependent Kinase Inhibitor p27/genetics ; Disease Models, Animal ; Humans ; Limb Buds/growth & development ; Limb Buds/metabolism ; Mesoderm/growth & development ; Mice ; Polydactyly/pathology ; Thumb/pathology
SCR Disease Name:
Polydactyly preaxial type 1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report
Autorzy:
Chi Zhao
Chengcheng Gao
Yijun Zhu
Qi Zhang
Ping Lin
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Temat:
GLI3
Polydactyly
Syndactyly
Whole-exome sequencing
Case report
Science (General)
Q1-390
Social sciences (General)
H1-99
Źródło:
Heliyon, Vol 10, Iss 7, Pp e28638- (2024)
Opis pliku:
electronic resource
Relacje:
http://www.sciencedirect.com/science/article/pii/S2405844024046693; https://doaj.org/toc/2405-8440
Dostęp URL:
https://doaj.org/article/2d9a97a5b86b40f7b506c6f9dd61720e  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Tytuł:
Cyclic stretch promotes the ossification of ligamentum flavum by modulating the Indian hedgehog signaling pathway.
Autorzy:
Gao R; Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, P.R. China.
Shi C; Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, P.R. China.
Yang C; Department of Orthopedics, Lanzhou General Hospital of PLA, Lanzhou, Gansu 730050, P.R. China.
Zhao Y; Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, P.R. China.
Chen X; Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, P.R. China.
Zhou X; Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, P.R. China.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2020 Aug; Vol. 22 (2), pp. 1119-1128. Date of Electronic Publication: 2020 Jun 02.
Typ publikacji:
Journal Article
MeSH Terms:
Signal Transduction*/drug effects
Stress, Mechanical*
Hedgehog Proteins/*genetics
Hedgehog Proteins/*metabolism
Ligamentum Flavum/*metabolism
Ossification, Heterotopic/*genetics
Ossification, Heterotopic/*metabolism
Adult ; Aged ; Alkaline Phosphatase/drug effects ; Alkaline Phosphatase/metabolism ; Cell Differentiation ; Cells, Cultured ; Core Binding Factor Alpha 1 Subunit/drug effects ; Core Binding Factor Alpha 1 Subunit/metabolism ; Female ; Hedgehog Proteins/antagonists & inhibitors ; Humans ; Ligamentum Flavum/pathology ; Male ; Middle Aged ; Nerve Tissue Proteins/metabolism ; Nuclear Proteins/metabolism ; Osteocalcin/drug effects ; Osteocalcin/metabolism ; Smoothened Receptor/genetics ; Smoothened Receptor/metabolism ; Sp7 Transcription Factor/drug effects ; Sp7 Transcription Factor/metabolism ; Veratrum Alkaloids/pharmacology ; Zinc Finger Protein GLI1/metabolism ; Zinc Finger Protein Gli2/metabolism ; Zinc Finger Protein Gli3/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 685

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