Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Collagen Type VII"" wg kryterium: Temat


Tytuł :
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
Autorzy :
Chong SC; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong.; The Chinese University of Hong Kong - Baylor College of Medicine Joint Center for Medical Genetics, Shatin, Hong Kong.
Hon KL; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong.
Yuen LYP; Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong.
Choi PCL; Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, Hong Kong.
Ng WGG; Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong kong.
Chiu TW; The Chinese University of Hong Kong - Baylor College of Medicine Joint Center for Medical Genetics, Shatin, Hong Kong.; Division of Plastic Reconstructive and Aesthetic Surgery, The Chinese University of Hong Kong, Shatin, Hong Kong.
Pokaż więcej
Źródło :
The Journal of dermatological treatment [J Dermatolog Treat] 2021 Feb; Vol. 32 (1), pp. 29-32. Date of Electronic Publication: 2020 Nov 02.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Genetic Counseling*
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*pathology
Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa, Junctional/genetics ; Epidermolysis Bullosa, Junctional/pathology ; Female ; Homozygote ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Sequence Deletion ; Young Adult
SCR Disease Name :
Epidermolysis bullosa dystrophica, Pasini type
Czasopismo naukowe
Tytuł :
Base Editor Correction of COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Patient-Derived Fibroblasts and iPSCs.
Autorzy :
Osborn MJ; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN. Electronic address: .
Newby GA; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA; Howard Hughes Medical Institute, Harvard University, Cambridge, MA.
McElroy AN; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Knipping F; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Nielsen SC; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Riddle MJ; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Xia L; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Chen W; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Eide CR; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Webber BR; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Wandall HH; University of Copenhagen, Centre for Glycomics, Department of Cellular and Molecular Medicine, Copenhagen, Denmark.
Dabelsteen S; University of Copenhagen, Centre for Glycomics, Department of Cellular and Molecular Medicine, Copenhagen, Denmark.
Blazar BR; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Liu DR; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA; Howard Hughes Medical Institute, Harvard University, Cambridge, MA.
Tolar J; Department of Pediatrics, Division of Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN.
Pokaż więcej
Źródło :
The Journal of investigative dermatology [J Invest Dermatol] 2020 Feb; Vol. 140 (2), pp. 338-347.e5. Date of Electronic Publication: 2019 Aug 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mesenchymal Stem Cell Transplantation*
Targeted Gene Repair*
Cell Engineering/*methods
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*therapy
Teratoma/*therapy
Animals ; Cell Differentiation ; Cells, Cultured ; Collagen Type VII/metabolism ; Disease Models, Animal ; Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa Dystrophica/pathology ; Fibroblasts/pathology ; Genes, Recessive/genetics ; Humans ; Induced Pluripotent Stem Cells/physiology ; Mesenchymal Stem Cells/physiology ; Mice ; Mutation ; Primary Cell Culture ; Teratoma/genetics ; Teratoma/pathology ; Transfection ; Transplantation, Autologous/methods
Czasopismo naukowe
Tytuł :
Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras.
Autorzy :
Petrova A; Molecular and Cellular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address: .
Georgiadis C; Molecular and Cellular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Fleck RA; Centre for Ultrastructural Imaging, King's College London, London, United Kingdom.
Allison L; Centre for Ultrastructural Imaging, King's College London, London, United Kingdom.
McGrath JA; St John's Institute of Dermatology, King's College London (Guy's Campus), Great Maze Pond, London, United Kingdom.
Dazzi F; Department of Haemato-Oncology, Rayne Institute, Faculty of Life Sciences & Medicine, King's College London, London, United Kingdom.
Di WL; Molecular and Cellular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Qasim W; Molecular and Cellular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Pokaż więcej
Źródło :
The Journal of investigative dermatology [J Invest Dermatol] 2020 Jan; Vol. 140 (1), pp. 121-131.e6. Date of Electronic Publication: 2019 Jul 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Collagen Type VII/*metabolism
Epidermolysis Bullosa Dystrophica/*metabolism
Mesenchymal Stem Cells/*physiology
Reticulin/*metabolism
Skin/*pathology
Animals ; Collagen Type VII/genetics ; Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa Dystrophica/pathology ; Genetic Engineering ; Humans ; Mice ; Mice, SCID ; Microscopy, Electron, Transmission ; Mutation/genetics ; Reticulin/ultrastructure ; Skin Transplantation ; Tight Junctions/metabolism ; Tight Junctions/ultrastructure ; Transplantation Chimera
Czasopismo naukowe
Tytuł :
Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa.
Autorzy :
Bremer J; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Department of Genetics, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Kramer D; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Eichhorn DS; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Gostyński A; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Diercks GFH; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Department of Pathology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Jonkman MF; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
van den Akker PC; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Department of Genetics, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Pasmooij AMG; Department of Dermatology, Center of Expertise of Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Pokaż więcej
Źródło :
Experimental dermatology [Exp Dermatol] 2019 Oct; Vol. 28 (10), pp. 1153-1155. Date of Electronic Publication: 2018 Aug 20.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Skin Transplantation*
Collagen Type VII/*biosynthesis
Collagen Type VII/*metabolism
Epidermolysis Bullosa Dystrophica/*pathology
Fibroblasts/*metabolism
Keratinocytes/*metabolism
Animals ; Antibodies, Heterophile/immunology ; Basement Membrane/metabolism ; Cells, Cultured ; Collagen Type VII/deficiency ; Collagen Type VII/genetics ; Collagen Type VII/immunology ; Dermis/pathology ; Epidermolysis Bullosa Dystrophica/immunology ; Female ; Fibroblasts/transplantation ; Gene Expression ; Heterografts ; Humans ; Keratinocytes/transplantation ; Male ; Mice ; Mice, SCID ; Models, Animal ; Skin Window Technique
Raport
Tytuł :
Collagen VII Expression Is Required in Both Keratinocytes and Fibroblasts for Anchoring Fibril Formation in Bilayer Engineered Skin Substitutes.
Autorzy :
Supp DM; Research Department, Shriners Hospitals for Children - Cincinnati, Cincinnati, OH, USA.; Department of Surgery, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Hahn JM; Research Department, Shriners Hospitals for Children - Cincinnati, Cincinnati, OH, USA.
Combs KA; Research Department, Shriners Hospitals for Children - Cincinnati, Cincinnati, OH, USA.
McFarland KL; Research Department, Shriners Hospitals for Children - Cincinnati, Cincinnati, OH, USA.
Schwentker A; Division of Plastic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Boissy RE; Department of Dermatology, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Boyce ST; Research Department, Shriners Hospitals for Children - Cincinnati, Cincinnati, OH, USA.; Department of Surgery, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Powell HM; Research Department, Shriners Hospitals for Children - Cincinnati, Cincinnati, OH, USA.; Department of Materials Science and Engineering, The Ohio State University, Columbus, OH, USA.; Department of Biomedical Engineering, The Ohio State University, Columbus, OH, USA.
Lucky AW; Division of Dermatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Pokaż więcej
Źródło :
Cell transplantation [Cell Transplant] 2019 Sep-Oct; Vol. 28 (9-10), pp. 1242-1256. Date of Electronic Publication: 2019 Jul 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Fibroblasts*/metabolism
Fibroblasts*/pathology
Fibroblasts*/transplantation
Gene Expression Regulation*
Keratinocytes*/metabolism
Keratinocytes*/pathology
Keratinocytes*/transplantation
Skin, Artificial*
Tissue Engineering*
Collagen Type VII/*biosynthesis
Adult ; Animals ; Collagen Type VII/genetics ; Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa Dystrophica/metabolism ; Heterografts ; Humans ; Male ; Mice ; Mutation ; Wound Healing ; Wounds and Injuries/genetics ; Wounds and Injuries/metabolism ; Wounds and Injuries/pathology
Czasopismo naukowe
Tytuł :
Efficient and Robust Highly Branched Poly(β-amino ester)/Minicircle COL7A1 Polymeric Nanoparticles for Gene Delivery to Recessive Dystrophic Epidermolysis Bullosa Keratinocytes.
Autorzy :
Zeng M; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.; Department of Dermatology , The First Affiliated Hospital of Anhui Medical University , Hefei 230022 , China.
Alshehri F; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.; Princess Nourah bint Abdulrahman University , Riyadh 11671 , Saudi Arabia.
Zhou D; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.; School of Chemical Engineering and Technology , Xi'an Jiaotong University , Xi'an , Shaanxi 710049 , China.
Lara-Sáez I; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.
Wang X; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.
Li X; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.
A S; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.
Xu Q; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.
Zhang J; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.
Wang W; Charles Institute of Dermatology , University College Dublin , Dublin D04 V1W8 , Ireland.
Pokaż więcej
Źródło :
ACS applied materials & interfaces [ACS Appl Mater Interfaces] 2019 Aug 28; Vol. 11 (34), pp. 30661-30672. Date of Electronic Publication: 2019 Aug 20.
Typ publikacji :
Journal Article
MeSH Terms :
Collagen Type VII*/biosynthesis
Collagen Type VII*/genetics
Epidermolysis Bullosa*/genetics
Epidermolysis Bullosa*/metabolism
Epidermolysis Bullosa*/pathology
Epidermolysis Bullosa*/therapy
Gene Transfer Techniques*
Genetic Therapy*
Keratinocytes*/metabolism
Keratinocytes*/pathology
Nanoparticles/*chemistry
Animals ; Cell Line ; Humans ; Polymers/chemistry ; Polymers/pharmacology
Czasopismo naukowe
Tytuł :
Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1 .
Autorzy :
Ham KA; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch 6150, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Nedlands 6009, Australia.
Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch 6150, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Nedlands 6009, Australia.
Fletcher S; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch 6150, Australia.
Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch 6150, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Nedlands 6009, Australia.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Oct 18; Vol. 21 (20). Date of Electronic Publication: 2020 Oct 18.
Typ publikacji :
Journal Article
MeSH Terms :
Collagen Type VII/*genetics
Exons/*genetics
RNA Splicing/*genetics
Base Sequence ; DNA Primers/metabolism ; Fibroblasts/metabolism ; Humans ; Introns/genetics ; RNA, Antisense/genetics ; RNA, Antisense/metabolism
Czasopismo naukowe
Tytuł :
Efficient Gene Reframing Therapy for Recessive Dystrophic Epidermolysis Bullosa with CRISPR/Cas9.
Autorzy :
Takashima S; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Shinkuma S; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. Electronic address: .
Fujita Y; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Nomura T; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Ujiie H; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Natsuga K; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Iwata H; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Nakamura H; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Vorobyev A; Department of Dermatology, University of Lübeck, Lübeck, Germany.
Abe R; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Shimizu H; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address: .
Pokaż więcej
Źródło :
The Journal of investigative dermatology [J Invest Dermatol] 2019 Aug; Vol. 139 (8), pp. 1711-1721.e4. Date of Electronic Publication: 2019 Mar 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA End-Joining Repair*
CRISPR-Cas Systems/*genetics
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*therapy
Genetic Therapy/*methods
Animals ; Collagen Type VII/chemistry ; Epidermolysis Bullosa Dystrophica/genetics ; Exons/genetics ; Fibroblasts/transplantation ; Frameshift Mutation ; Gene Editing/methods ; Genes, Recessive/genetics ; HEK293 Cells ; Humans ; Infant ; Mice ; Mutagenesis, Site-Directed ; Mutation ; Primary Cell Culture ; Protein Conformation, alpha-Helical/genetics ; Recombinant Proteins/chemistry ; Recombinant Proteins/genetics
Czasopismo naukowe
Tytuł :
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Autorzy :
Vahidnezhad H; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
Touati A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Drexel University College of Medicine, Philadelphia, PA, USA.
Pajouhanfar S; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Baghdadi T; Department of Orthopedic Surgery, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Shadmehri AA; Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Marvdasht, Fars, Iran.
Giunta C; Connective Tissue Unit, Division of Metabolism, Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Kraenzlin M; Medical Faculty of the University of Basel, Clinic for Endocrinology, Diabetes & Metabolism, University Hospital Basel, Basel, Switzerland.
Syx D; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Malfait F; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Has C; Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Lwin SM; St John's Institute of Dermatology, King's College London, Guy's Campus, London.
Karamzadeh R; Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
Liu L; Viapath, St Thomas' Hospital, London, UK.
Guy A; Viapath, St Thomas' Hospital, London, UK.
Hamid M; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Zeinali S; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Kawsar Human Genetics Research Center, Tehran, Iran.
McGrath JA; St John's Institute of Dermatology, King's College London, Guy's Campus, London.
Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: .
Pokaż więcej
Źródło :
Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2019 Aug; Vol. 81, pp. 91-106. Date of Electronic Publication: 2018 Nov 18.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Collagen Type VII/*deficiency
Epidermolysis Bullosa/*genetics
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase/*genetics
Child, Preschool ; Collagen Type VII/genetics ; Down-Regulation ; Epidermolysis Bullosa/classification ; Homozygote ; Humans ; Male ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Rapid repair of human disease-specific single-nucleotide variants by One-SHOT genome editing.
Autorzy :
Yokouchi Y; Pluripotent Stem Cell Research Unit in Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan. .; Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, Fukushima, Japan. .
Suzuki S; Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, Fukushima, Japan.
Ohtsuki N; Pluripotent Stem Cell Research Unit in Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.; Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, Fukushima, Japan.
Yamamoto K; Pluripotent Stem Cell Research Unit in Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.; Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, Fukushima, Japan.
Noguchi S; Pluripotent Stem Cell Research Unit in Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.; Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, Fukushima, Japan.
Soejima Y; Department of Cell Modulation, Institute of Molecular Embryology and Genetics (IMEG), Kumamoto University, Kumamoto, Japan.
Goto M; Department of Cell Modulation, Institute of Molecular Embryology and Genetics (IMEG), Kumamoto University, Kumamoto, Japan.; Department of Dermatology, Faculty of Medicine, Oita University, Yufu, Japan.
Ishioka K; Department of Microbiology, School of Medicine, Fukushima Medical University, Fukushima, Japan.
Nakamura I; Pluripotent Stem Cell Research Unit in Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.; Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, Fukushima, Japan.
Suzuki S; Office of Thyroid Ultrasound Examination Promotion, Radiation Medical Science Centre for the Fukushima Health Management Survey, Fukushima Medical University, Fukushima, Japan.
Takenoshita S; Fukushima Medical University, Fukushima, Japan.
Era T; Pluripotent Stem Cell Research Unit in Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan.; Department of Thyroid and Endocrinology, School of Medicine, Fukushima Medical University, Fukushima, Japan.; Department of Cell Modulation, Institute of Molecular Embryology and Genetics (IMEG), Kumamoto University, Kumamoto, Japan.
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2020 Aug 18; Vol. 10 (1), pp. 13927. Date of Electronic Publication: 2020 Aug 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Bacterial Proteins/*metabolism
CRISPR-Associated Proteins/*metabolism
Endodeoxyribonucleases/*metabolism
Gene Editing/*methods
Polymorphism, Single Nucleotide/*genetics
Alleles ; Bacterial Proteins/genetics ; CRISPR-Associated Proteins/genetics ; CRISPR-Cas Systems/genetics ; Collagen Type VII/genetics ; Collagen Type VII/metabolism ; Endodeoxyribonucleases/genetics ; Endonucleases/genetics ; Genome, Human/genetics ; Humans ; Induced Pluripotent Stem Cells/physiology ; Mutation/genetics ; Nucleotides/genetics ; Pluripotent Stem Cells/physiology ; Proto-Oncogene Proteins c-ret/genetics ; Proto-Oncogene Proteins c-ret/metabolism
Czasopismo naukowe
Tytuł :
Pembrolizumab for Treatment of a Patient With Multiple Cutaneous Squamous Cell Carcinomas and Recessive Dystrophic Epidermolysis Bullosa.
Autorzy :
Piccerillo A; Institute of Dermatology, Università Cattolica del Sacro Cuore, Milan, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
El Hachem M; Institute of Dermatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
De Vito R; Pathology Unit, Department of Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
De Luca EV; Institute of Dermatology, Università Cattolica del Sacro Cuore, Milan, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Peris K; Institute of Dermatology, Università Cattolica del Sacro Cuore, Milan, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Pokaż więcej
Źródło :
JAMA dermatology [JAMA Dermatol] 2020 Jun 01; Vol. 156 (6), pp. 708-710.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Antibodies, Monoclonal, Humanized/*administration & dosage
Antineoplastic Agents, Immunological/*administration & dosage
Carcinoma, Squamous Cell/*drug therapy
Epidermolysis Bullosa Dystrophica/*drug therapy
Skin Neoplasms/*drug therapy
Adult ; Antibodies, Monoclonal, Humanized/adverse effects ; Antineoplastic Agents, Immunological/adverse effects ; B7-H1 Antigen/analysis ; B7-H1 Antigen/immunology ; Carcinoma, Squamous Cell/immunology ; Carcinoma, Squamous Cell/pathology ; Collagen Type VII/genetics ; Epidermolysis Bullosa Dystrophica/genetics ; Epidermolysis Bullosa Dystrophica/immunology ; Female ; Humans ; Mutation ; Skin/immunology ; Skin/pathology ; Skin Neoplasms/immunology ; Skin Neoplasms/pathology ; Thyroiditis/chemically induced ; Thyroiditis/drug therapy ; Thyroiditis/immunology ; Thyroxine/therapeutic use ; Treatment Outcome
Czasopismo naukowe
Tytuł :
A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.
Autorzy :
Jin L; Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.; Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China.
Li Z; Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.; Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China.
Xin C; Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.; Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China.
Tang L; Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.; Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China.
Zhang X; Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.; Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China.
Zhang B; Department of Oncology, The Second Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.
Yang S; Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.; Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China.
Pokaż więcej
Źródło :
Journal of cosmetic dermatology [J Cosmet Dermatol] 2020 Jun; Vol. 19 (6), pp. 1508-1512. Date of Electronic Publication: 2019 Nov 10.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*genetics
Adolescent ; Asian Continental Ancestry Group/genetics ; DNA Mutational Analysis ; Epidermolysis Bullosa Dystrophica/pathology ; Exons/genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Pedigree ; RNA Splice Sites/genetics ; Sequence Deletion ; Skin/pathology ; Whole Exome Sequencing ; Young Adult
SCR Disease Name :
Epidermolysis bullosa, pretibial
Czasopismo naukowe
Tytuł :
Mild dystrophic epidermolysis bullosa associated with homozygous gene mutation c.6216+5G>T in type VII collagen ultrastructurally suggestive of the decreased number of anchoring fibrils.
Autorzy :
Komori T; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Dainichi T; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Otsuka A; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Nakano H; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Sawamura D; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Ishida-Yamamoto A; Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
Kabashima K; Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Singapore Immunology Network (SIgN) and Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.
Pokaż więcej
Źródło :
The Journal of dermatology [J Dermatol] 2018 Nov; Vol. 45 (11), pp. e305-e306. Date of Electronic Publication: 2018 Apr 25.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*genetics
Collagen Type VII/ultrastructure ; DNA Mutational Analysis ; Epidermolysis Bullosa Dystrophica/diagnosis ; Epidermolysis Bullosa Dystrophica/pathology ; Homozygote ; Humans ; Infant ; Male ; Microscopy, Electron ; Mutation ; Severity of Illness Index ; Skin/pathology ; Skin/ultrastructure
Raport
Tytuł :
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?
Autorzy :
Gumus E; Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey.
Pokaż więcej
Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2018 Oct; Vol. 27 (4), pp. 138-141.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*genetics
Adult ; Child ; Collagen Type VII/physiology ; Female ; Genes, Recessive/genetics ; Homozygote ; Humans ; Male ; Mutation/genetics ; Parents ; Siblings ; Turkey
Czasopismo naukowe
Tytuł :
Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model.
Autorzy :
Liao Y; Department of Pediatrics, New York Medical College, Valhalla, New York, USA.
Ivanova L; Department of Pediatrics, New York Medical College, Valhalla, New York, USA.
Sivalenka R; Celgene Cellular Therapeutics, Warren, New Jersey, USA.
Plumer T; Department of Pediatrics, New York Medical College, Valhalla, New York, USA.
Zhu H; Department of Surgery, Tianjin Hospital, Tianjin Academy of Integrative Medicine, Tianjin, People's Republic of China.
Zhang X; Celgene Cellular Therapeutics, Warren, New Jersey, USA.
Christiano AM; Department of Dermatology, Columbia University Medical Center, New York, New York, USA.
McGrath JA; St John's Institute of Dermatology, King's College, London, United Kingdom.
Gurney JP; Celgene Cellular Therapeutics, Warren, New Jersey, USA.
Cairo MS; Department of Pediatrics, New York Medical College, Valhalla, New York, USA.; Department of Medicine, New York Medical College, Valhalla, New York, USA.; Department of Pathology, New York Medical College, Valhalla, New York, USA.; Department of Immunology & Microbiology, New York Medical College, Valhalla, New York, USA.; Department of Cell Biology & Anatomy, New York Medical College, Valhalla, New York, USA.
Pokaż więcej
Źródło :
Stem cells translational medicine [Stem Cells Transl Med] 2018 Jul; Vol. 7 (7), pp. 530-542. Date of Electronic Publication: 2018 May 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Stem Cell Transplantation*
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*therapy
Animals ; Antibodies/blood ; Antibodies/immunology ; Collagen Type VII/deficiency ; Collagen Type VII/immunology ; Disease Models, Animal ; Epidermolysis Bullosa Dystrophica/mortality ; Female ; Humans ; Intestine, Small/metabolism ; Intestine, Small/pathology ; Kaplan-Meier Estimate ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Placenta/cytology ; Pregnancy ; Skin/pathology ; Skin/ultrastructure ; Stem Cells/cytology ; Stem Cells/metabolism
Czasopismo naukowe
Tytuł :
Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita.
Autorzy :
Watanabe M; Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Natsuga K; Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Shinkuma S; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Shimizu H; Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Pokaż więcej
Źródło :
The Journal of dermatology [J Dermatol] 2018 May; Vol. 45 (5), pp. 515-521. Date of Electronic Publication: 2018 Jan 20.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Autoimmune Diseases/*immunology
Collagen Type VII/*immunology
Epidermis/*pathology
Epidermolysis Bullosa Acquisita/*immunology
Epidermolysis Bullosa Dystrophica/*pathology
Animals ; Autoimmune Diseases/pathology ; Basement Membrane/pathology ; Basement Membrane/ultrastructure ; Carcinogenesis/genetics ; Carcinogenesis/pathology ; Carcinoma, Squamous Cell/genetics ; Carcinoma, Squamous Cell/pathology ; Collagen Type VII/genetics ; Collagen Type VII/metabolism ; Epidermal Cells ; Epidermis/ultrastructure ; Epidermolysis Bullosa Acquisita/pathology ; Humans ; Keratinocytes/cytology ; Keratinocytes/immunology ; Keratinocytes/pathology ; Keratinocytes/ultrastructure ; Microscopy, Electron ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Wound Healing/physiology
Czasopismo naukowe
Tytuł :
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
Autorzy :
Masunaga T; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.; Research Laboratories, KOSÉ Corporation, Tokyo, Japan.
Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Ishiko A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.; Department of Dermatology, School of Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
Pokaż więcej
Źródło :
The Journal of dermatology [J Dermatol] 2018 Jun; Vol. 45 (6), pp. 742-745. Date of Electronic Publication: 2018 Mar 03.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*genetics
Genes, Recessive/*genetics
RNA Splice Sites/*genetics
Codon, Nonsense/genetics ; Collagen Type VII/metabolism ; DNA Mutational Analysis ; Epidermis/pathology ; Epidermolysis Bullosa Dystrophica/diagnosis ; Epidermolysis Bullosa Dystrophica/pathology ; Exons/genetics ; Female ; Humans ; Introns/genetics ; Middle Aged ; RNA Splicing/genetics
SCR Disease Name :
Epidermolysis bullosa, pretibial
Czasopismo naukowe
Tytuł :
Epidermolysis Bullosa Acquisita: A Case Report.
Autorzy :
Kumetz EA; Department of Flight Medicine, 36th Medical Group, Andersen Air Force Base, Yigo, Guam.
Meyerle JH; Department of Dermatology, Walter Reed National Military Medical Center, Bethesda, MD, USA.
Rivard SC; Division of Dermatology, U.S. Naval Hospital Guam, Agana Heights, Guam.
Pokaż więcej
Źródło :
The American journal of case reports [Am J Case Rep] 2020 Apr 20; Vol. 21, pp. e919432. Date of Electronic Publication: 2020 Apr 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Autoimmune Diseases/*diagnosis
Epidermolysis Bullosa Acquisita/*diagnosis
Abscess/therapy ; Aged ; Anti-Inflammatory Agents/therapeutic use ; Autoimmune Diseases/drug therapy ; Collagen Type VII/immunology ; Epidermolysis Bullosa Acquisita/complications ; Epidermolysis Bullosa Acquisita/drug therapy ; Humans ; Male ; Micronesia ; Prednisone/therapeutic use ; Staphylococcal Infections/therapy
Czasopismo naukowe
Tytuł :
[Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene].
Autorzy :
Lyu X; Department of Health Management, Henan Provincial People's Hospital (People's Hospital of Zhengzhou University), Zhengzhou, Henan 450003, China. .
Li H
Liu H
Chou H
Li T
Zhou W
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Apr 10; Vol. 37 (4), pp. 445-448.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Genetic Testing*
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*genetics
Child ; Exons ; Female ; Genes, Recessive ; Humans ; Male ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.
Autorzy :
Rehman AU; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.
Peter VG; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.
Quinodoz M; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.
Dawood M; Department of Dermatology, District Headquarter Hospital Khar, District Bajaur, Khyber Pakhtunkhwa, Pakistan.
Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB).; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland.
Pokaż więcej
Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Apr; Vol. 29 (2), pp. 86-89.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Consanguinity*
Genes, Recessive*
Genome, Human*
Mutation*
Whole Exome Sequencing*
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*diagnosis
Epidermolysis Bullosa Dystrophica/*genetics
Alleles ; Amino Acid Substitution ; DNA Mutational Analysis ; Exons ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Pakistan ; Pedigree ; Phenotype
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies