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Tytuł:
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Autorzy:
Khalesi R; Department of Medical Genetics, DeNA Laboratory, Tehran, Iran.
Harvey N; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA.
Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Kalamati E; Obstetrics and Gynecology Department, Imam Zaman Hospital, Mashhad University of Medical Science, Mashhad, Iran.
Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
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Źródło:
Experimental dermatology [Exp Dermatol] 2022 Jun; Vol. 31 (6), pp. 949-955. Date of Electronic Publication: 2022 Mar 19.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystonin*/genetics
Epidermolysis Bullosa Simplex*/genetics
Epidermolysis Bullosa Simplex*/metabolism
Hereditary Sensory and Autonomic Neuropathies*/genetics
Female ; Homozygote ; Humans ; Mutation ; Phenotype ; Protein Isoforms/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum.
Autorzy:
Sproule TJ; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Wilpan RY; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Wilson JJ; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Low BE; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Kabata Y; Division of Dermatology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.; Division of Microscopic Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Ushiki T; Division of Microscopic Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Abe R; Division of Dermatology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Wiles MV; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Roopenian DC; The Jackson Laboratory, Bar Harbor, ME, United States of America.
Sundberg JP; The Jackson Laboratory, Bar Harbor, ME, United States of America.; Department of Dermatology, Vanderbilt University Medical Center, Nashville, TN, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Oct 26; Vol. 18 (10), pp. e0293218. Date of Electronic Publication: 2023 Oct 26 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystonia*/genetics
Dystonia*/metabolism
Dystonic Disorders*/metabolism
Epidermolysis Bullosa*/genetics
Epidermolysis Bullosa Simplex*/diagnosis
Epidermolysis Bullosa Simplex*/genetics
Epidermolysis Bullosa Simplex*/metabolism
Epidermolysis Bullosa, Junctional*/genetics
Epidermolysis Bullosa, Junctional*/diagnosis
Epidermolysis Bullosa, Junctional*/metabolism
Animals ; Mice ; Dystonin/metabolism ; Skin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dystonin loss-of-function leads to impaired autophagosome-endolysosome pathway dynamics.
Autorzy:
Lynch-Godrei A; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Repentigny Y; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.
Ferrier A; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Gagnon S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.
Kothary R; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Department of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Centre for Neuromuscular Disease, University of Ottawa, ON K1H 8M5, Canada.
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Źródło:
Biochemistry and cell biology = Biochimie et biologie cellulaire [Biochem Cell Biol] 2021 Jun; Vol. 99 (3), pp. 364-373. Date of Electronic Publication: 2020 Dec 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autophagy*
Loss of Function Mutation*
Autophagosomes/*pathology
Dystonin/*physiology
Endosomes/*pathology
Lysosomes/*pathology
Neurons/*pathology
Animals ; Autophagosomes/metabolism ; Endosomes/metabolism ; Ganglia, Spinal/metabolism ; Ganglia, Spinal/pathology ; Lysosomes/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Neurons/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.
Autorzy:
Lynch-Godrei A; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
De Repentigny Y; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Yaworski RA; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Gagnon S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Butcher J; Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
Manoogian J; Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
Stintzi A; Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
Kothary R; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.; Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.; Department of Medicine, University of Ottawa, Ottawa, ON, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada.
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Źródło:
Neurogastroenterology and motility [Neurogastroenterol Motil] 2020 Apr; Vol. 32 (4), pp. e13773. Date of Electronic Publication: 2019 Dec 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hereditary Sensory and Autonomic Neuropathies*
Dystonin/*genetics
Enteric Nervous System/*pathology
Gastrointestinal Tract/*innervation
Gastrointestinal Tract/*pathology
Animals ; Disease Models, Animal ; Gastrointestinal Microbiome/physiology ; Mice ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
miR-1291 Functions as a Potential Serum Biomarker for Bullous Pemphigoid.
Autorzy:
Qiu L; Department of Dermatology, The First Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry of Education, Shenyang, Liaoning, China.
Zhang L; Department of Dermatology, The First Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry of Education, Shenyang, Liaoning, China.
Qi R; Department of Dermatology, The First Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry of Education, Shenyang, Liaoning, China.
Gao X; Department of Dermatology, The First Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry of Education, Shenyang, Liaoning, China.
Chen H; Department of Dermatology, The First Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry of Education, Shenyang, Liaoning, China.
Xiao T; Department of Dermatology, The First Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry of Education, Shenyang, Liaoning, China.
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Źródło:
Disease markers [Dis Markers] 2020 Jan 11; Vol. 2020, pp. 9505312. Date of Electronic Publication: 2020 Jan 11 (Print Publication: 2020).
Typ publikacji:
Journal Article
MeSH Terms:
Chemokine CCL17/*genetics
MicroRNAs/*genetics
Pemphigoid, Bullous/*diagnosis
Pemphigoid, Bullous/*genetics
Adult ; Aged ; Aged, 80 and over ; Autoantibodies/blood ; Autoantibodies/genetics ; Autoantigens/blood ; Autoantigens/genetics ; Autoantigens/immunology ; Biomarkers/blood ; Case-Control Studies ; Chemokine CCL17/blood ; Chemokine CCL17/immunology ; Dystonin/blood ; Dystonin/genetics ; Dystonin/immunology ; Female ; Humans ; Male ; MicroRNAs/blood ; MicroRNAs/immunology ; Middle Aged ; Non-Fibrillar Collagens/blood ; Non-Fibrillar Collagens/genetics ; Non-Fibrillar Collagens/immunology ; Pemphigoid, Bullous/blood ; Pemphigoid, Bullous/immunology ; Skin/immunology ; Skin/pathology ; Th2 Cells/immunology ; Th2 Cells/pathology ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dystonin/BPAG1 modulates diabetes and Alzheimer's disease cross-talk: a meta-analysis.
Autorzy:
Cheng J; Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan.; Department of Medical Research, China Medical University Hospital, Taichung, 40447, Taiwan.
Liu HP; Graduate Institute of Acupuncture Science, College of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan.; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, 41354, Taiwan.
Hwang SL; Department of Nursing, Chang Gung University of Science and Technology, Chiayi County, 61363, Taiwan.; Division of Pulmonary and Critical Care Medicine, Chang Gung Memorial Hospital, Chiayi County, 61363, Taiwan.
Hsu LF; Department of Respiratory Care, Chang Gung University of Science and Technology, Chiayi County, 61363, Taiwan.; Division of Neurosurgery, Department of Surgery, Chang Gung Memorial Hospital, Chiayi County, 61363, Taiwan.
Lin WY; Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan. .; Department of Medical Research, China Medical University Hospital, Taichung, 40447, Taiwan. .; Brain Diseases Research Center, China Medical University, Taichung, 40402, Taiwan. .
Tsai FJ; Department of Medical Research, China Medical University Hospital, Taichung, 40447, Taiwan. .; School of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan. .; Department of Biotechnology, Asia University, Taichung, 41354, Taiwan. .; Children's Medical Center, China Medical University Hospital, Taichung, 40447, Taiwan. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Aug; Vol. 40 (8), pp. 1577-1582. Date of Electronic Publication: 2019 Apr 08.
Typ publikacji:
Journal Article; Meta-Analysis
MeSH Terms:
Alzheimer Disease/*etiology
Alzheimer Disease/*metabolism
Diabetes Complications/*metabolism
Diabetes Mellitus/*metabolism
Dystonin/*metabolism
Animals ; Diabetes Mellitus, Experimental/complications ; Diabetes Mellitus, Experimental/metabolism ; Humans ; Mice
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Serum Levels of Interleukin 18 and Interleukin 10 in Iranian Patients with Bullous Pemphigoid and Their Correlation with BP180-NC16a and BP230.
Autorzy:
Esmaili N; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Autoimmune Bullous Research Center, Tehran University of Medical Sciences, Tehran, Iran. .
Mortazavi H; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Autoimmune Bullous Research Center, Tehran University of Medical Sciences, Tehran, Iran. .
Ansari MS; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran. .
Nasimi M; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran. .
Ardalanrad Y; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran. .
Teimourpour A; Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. .
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Źródło:
Iranian journal of allergy, asthma, and immunology [Iran J Allergy Asthma Immunol] 2020 Feb 01; Vol. 19 (1), pp. 102-104. Date of Electronic Publication: 2020 Feb 01.
Typ publikacji:
Letter
MeSH Terms:
Autoantigens/*blood
Dystonin/*blood
Interleukin-10/*blood
Interleukin-18/*blood
Non-Fibrillar Collagens/*blood
Pemphigoid, Bullous/*blood
Aged ; Anti-Inflammatory Agents/therapeutic use ; Female ; Humans ; Iran ; Male ; Middle Aged ; Pemphigoid, Bullous/drug therapy ; Pemphigoid, Bullous/immunology ; Pemphigoid, Bullous/therapy ; Collagen Type XVII
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Refractory Pemphigoid with Autoantibodies to Both BP230 and Laminin gamma1.
Autorzy:
Ashida H; Department of Dermatology, Takamatsu Red Cross Hospital, 760-0017 Takamatsu, Japan.
Hamada T
Hosokawa Y
Hashimoto T
Nishie W
Ishii N
Nakama T
Kanno T
Ikeda M
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Źródło:
Acta dermato-venereologica [Acta Derm Venereol] 2019 Nov 01; Vol. 99 (12), pp. 1172-1173.
Typ publikacji:
Case Reports
MeSH Terms:
Autoantibodies/*blood
Dystonin/*immunology
Immunoglobulin G/*blood
Laminin/*immunology
Pemphigoid, Bullous/*immunology
Adrenal Cortex Hormones/therapeutic use ; Drug Resistance ; Drug Therapy, Combination ; Histamine Antagonists ; Humans ; Immunosuppressive Agents/therapeutic use ; Male ; Middle Aged ; Pemphigoid, Bullous/blood ; Pemphigoid, Bullous/diagnosis ; Pemphigoid, Bullous/drug therapy ; Remission Induction ; Treatment Outcome
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.
Autorzy:
Has C; Faculty of Medicine, Department of Dermatology, Medical Center, University of Freiburg, University of Freiburg, Freiburg, Germany.
Fischer J; Faculty of Medicine, Department of Human Genetics, Medical Center, University of Freiburg, University of Freiburg, Freiburg, Germany.
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Źródło:
Experimental dermatology [Exp Dermatol] 2019 Oct; Vol. 28 (10), pp. 1146-1152. Date of Electronic Publication: 2018 Jun 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Epidermolysis Bullosa/*genetics
Adaptor Proteins, Signal Transducing/genetics ; Dystonin/genetics ; Epidermolysis Bullosa/classification ; Epidermolysis Bullosa/diagnosis ; Epidermolysis Bullosa/pathology ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Humans ; Integrin alpha3/genetics ; Molecular Diagnostic Techniques ; Phenotype ; Plectin/genetics ; Repressor Proteins/genetics ; Tetraspanin 24/genetics ; Whole Genome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Biological and Clinical Response to Omalizumab in a Patient with Bullous Pemphigoid.
Autorzy:
Menzinger S; Department of Dermatology, University Hospital of Geneva, CH-1205 Geneva, Switzerland. .
Kaya G
Schmidt E
Fontao L
Laffitte E
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Źródło:
Acta dermato-venereologica [Acta Derm Venereol] 2018 Feb 07; Vol. 98 (2), pp. 284-286.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Immunologic Factors/*therapeutic use
Omalizumab/*therapeutic use
Pemphigoid, Bullous/*drug therapy
Skin/*drug effects
Aged ; Autoantibodies/blood ; Autoantigens/immunology ; Biomarkers/blood ; Biopsy ; Dystonin/immunology ; Female ; Fluorescent Antibody Technique ; Humans ; Immunoglobulin E/blood ; Non-Fibrillar Collagens/immunology ; Pemphigoid, Bullous/blood ; Pemphigoid, Bullous/diagnosis ; Pemphigoid, Bullous/immunology ; Remission Induction ; Severity of Illness Index ; Skin/immunology ; Skin/pathology ; Treatment Outcome ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Neurological and psychiatric associations in bullous pemphigoid-more than skin deep?
Autorzy:
Försti AK; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Dermatology and Medical Research Center Oulu, Oulu University Hospital, Oulu University Hospital, Oulu, Finland.
Huilaja L; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Dermatology and Medical Research Center Oulu, Oulu University Hospital, Oulu University Hospital, Oulu, Finland.
Schmidt E; Department of Dermatology, University of Lübeck, Lübeck, Germany.
Tasanen K; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Dermatology and Medical Research Center Oulu, Oulu University Hospital, Oulu University Hospital, Oulu, Finland.
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Źródło:
Experimental dermatology [Exp Dermatol] 2017 Dec; Vol. 26 (12), pp. 1228-1234. Date of Electronic Publication: 2017 Sep 24.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Autoantigens/*immunology
Dystonin/*immunology
Mental Disorders/*complications
Nervous System Diseases/*complications
Non-Fibrillar Collagens/*immunology
Pemphigoid, Bullous/*complications
Humans ; Nervous System Diseases/immunology ; Pemphigoid, Bullous/immunology ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Structural proteins of the dermal-epidermal junction targeted by autoantibodies in pemphigoid diseases.
Autorzy:
Goletz S; Lübeck Institute of Experimental Dermatology (LIED), University of Lübeck, Lübeck, Germany.
Zillikens D; Department of Dermatology, University of Lübeck, Lübeck, Germany.
Schmidt E; Lübeck Institute of Experimental Dermatology (LIED), University of Lübeck, Lübeck, Germany.; Department of Dermatology, University of Lübeck, Lübeck, Germany.
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Źródło:
Experimental dermatology [Exp Dermatol] 2017 Dec; Vol. 26 (12), pp. 1154-1162.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Autoantibodies/*immunology
Skin Diseases, Vesiculobullous/*immunology
Animals ; Autoantigens/immunology ; Collagen Type VII/immunology ; Dystonin/immunology ; Humans ; Integrin alpha6beta4/immunology ; Laminin/immunology ; Non-Fibrillar Collagens/immunology ; Plectin/immunology ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Diagnostic Value of Linear Fluorescence Along the Basement Membrane of Sweat Gland Ducts in Bullous Pemphigoid.
Autorzy:
Bağcı IS; Department of Dermatology and Allergology, Ludwig-Maximilian University, Frauenlobstr. 9-11, DE-80337 Munich, Germany. .
Horváth ON
Schmidt E
Ruzicka T
Sárdy M
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Źródło:
Acta dermato-venereologica [Acta Derm Venereol] 2017 May 08; Vol. 97 (5), pp. 622-626.
Typ publikacji:
Journal Article
MeSH Terms:
Microscopy, Fluorescence*
Autoantibodies/*analysis
Autoantigens/*immunology
Basement Membrane/*immunology
Dystonin/*immunology
Immunoglobulin G/*analysis
Non-Fibrillar Collagens/*immunology
Pemphigoid, Bullous/*diagnosis
Sweat Glands/*immunology
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Basement Membrane/pathology ; Biomarkers/analysis ; Case-Control Studies ; Child ; Female ; Humans ; Luminescent Measurements ; Male ; Middle Aged ; Pemphigoid, Bullous/immunology ; Pemphigoid, Bullous/pathology ; Predictive Value of Tests ; Reproducibility of Results ; Sweat Glands/pathology ; Turkey ; Young Adult ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.
Autorzy:
He Y; Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
Leppert J
Steinke H
Has C
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Źródło:
Acta dermato-venereologica [Acta Derm Venereol] 2017 May 08; Vol. 97 (5), pp. 657-659.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Dystonin/*genetics
Epidermolysis Bullosa Simplex/*genetics
RNA, Messenger/*metabolism
Autoantigens/genetics ; Autoantigens/metabolism ; Codon, Nonsense ; Epidermolysis Bullosa Simplex/metabolism ; Fibronectins/metabolism ; Homozygote ; Humans ; Integrin beta1/metabolism ; Keratinocytes/metabolism ; Keratins/genetics ; Male ; Non-Fibrillar Collagens/genetics ; Non-Fibrillar Collagens/metabolism ; Protein Isoforms/genetics ; Sequence Deletion ; Young Adult ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A multi-hit hypothesis of bullous pemphigoid and associated neurological disease: Is HLA-DQB1*03:01, a potential link between immune privileged antigen exposure and epitope spreading?
Autorzy:
Amber KT; Department of Dermatology, University of California Irvine, Irvine, California.
Zikry J; Department of Dermatology, University of California Irvine, Irvine, California.
Hertl M; Department of Dermatology and Allergology, Philipps University of Marburg, Germany.
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Źródło:
HLA [HLA] 2017 Mar; Vol. 89 (3), pp. 127-134. Date of Electronic Publication: 2017 Jan 19.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Autoantibodies/*immunology
Autoantigens/*immunology
HLA-DQ beta-Chains/*immunology
Neurodegenerative Diseases/*immunology
Non-Fibrillar Collagens/*immunology
Pemphigoid, Bullous/*immunology
Autoantibodies/biosynthesis ; Autoantigens/genetics ; Dystonin/genetics ; Dystonin/immunology ; Epitopes/genetics ; Epitopes/immunology ; Gene Expression ; Genetic Predisposition to Disease ; HLA-DQ beta-Chains/genetics ; Histocompatibility Testing ; Humans ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/physiopathology ; Non-Fibrillar Collagens/genetics ; Pemphigoid, Bullous/complications ; Pemphigoid, Bullous/genetics ; Pemphigoid, Bullous/physiopathology ; T-Lymphocytes/immunology ; T-Lymphocytes/pathology ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Correlation of autoantibodies against BP180/BP230 in response to topical corticosteroids in patients with bullous pemphigoid.
Autorzy:
Schneiderbauer R; Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
Martinache S; Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
Engstner M; Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
Enk AH; Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
Hadaschik EN; Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
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Źródło:
Dermatologic therapy [Dermatol Ther] 2016 Nov; Vol. 29 (6), pp. 419-423. Date of Electronic Publication: 2016 Aug 23.
Typ publikacji:
Journal Article
MeSH Terms:
Adrenal Cortex Hormones/*administration & dosage
Autoantibodies/*blood
Autoantigens/*immunology
Dystonin/*immunology
Immunoglobulin G/*blood
Non-Fibrillar Collagens/*immunology
Pemphigoid, Bullous/*drug therapy
Administration, Cutaneous ; Adult ; Aged ; Aged, 80 and over ; Biomarkers/blood ; Female ; Humans ; Male ; Middle Aged ; Pemphigoid, Bullous/blood ; Pemphigoid, Bullous/diagnosis ; Pemphigoid, Bullous/immunology ; Predictive Value of Tests ; Retrospective Studies ; Time Factors ; Treatment Outcome ; Collagen Type XVII
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hemidesmosomes: how much plakins do they need?
Autorzy:
Has C; Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.
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Źródło:
Experimental dermatology [Exp Dermatol] 2016 Apr; Vol. 25 (4), pp. 263-4. Date of Electronic Publication: 2016 Feb 26.
Typ publikacji:
Journal Article
MeSH Terms:
Hemidesmosomes/*metabolism
Keratinocytes/*metabolism
Plakins/*metabolism
Animals ; Collagen/metabolism ; Dystonin/metabolism ; Epidermolysis Bullosa Simplex/metabolism ; Hereditary Sensory and Autonomic Neuropathies/metabolism ; Humans ; Integrin beta4/metabolism ; Mice ; Mutation ; Protein Isoforms/metabolism ; Signal Transduction ; Systems Biology
Czasopismo naukowe
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