A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis.

Animals Antigens, CD / genetics Cholangitis, Sclerosing / genetics Gene Knock-In Techniques Germ Cells Germ-Line Mutation Interferon-gamma Mice Semaphorins / genetics T-Lymphocytes

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
24 02 2021
Historique:
received: 22 01 2020
accepted: 03 02 2021
entrez: 25 2 2021
pubmed: 26 2 2021
medline: 13 7 2021
Statut: ppublish

Résumé

Primary sclerosing cholangitis (PSC) is a chronic inflammatory liver disease without clear etiology or effective treatment. Genetic factors contribute to PSC pathogenesis, but so far, no causative mutation has been found. We performed whole-exome sequencing in a family with autosomal dominant inheritance of PSC and identified a heterozygous germline missense mutation in

Identifiants

DOI: 10.1126/scitranslmed.abb0036 PMID: 33627483
pubmed: 33627483
pii: 13/582/eabb0036
doi: 10.1126/scitranslmed.abb0036
pii:
doi:

Substances chimiques

Antigens, CD 0
CD100 antigen 0
Semaphorins 0
Interferon-gamma 82115-62-6

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Auteurs

Xiaojun Jiang (X)

Norwegian PSC Research Center, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.
ORCID: 0000-0003-1503-5997

Annika Bergquist (A)

Department of Gastroenterology and Hepatology, Karolinska University Hospital Huddinge, Karolinska Institutet, 171 77 Stockholm, Sweden.

Britt-Sabina Löscher (BS)

Institute of Clinical Molecular Biology, Kiel University, 24118 Kiel, Germany.
ORCID: 0000-0001-9022-9017

Geetha Venkatesh (G)

Institute of Clinical Molecular Biology, Kiel University, 24118 Kiel, Germany.

Jeff E Mold (JE)

Department of Cell and Molecular Biology, Karolinska Institutet, 171 77 Stockholm, Sweden.

Kristian Holm (K)

Norwegian PSC Research Center, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.

Jon K Laerdahl (JK)

Department of Microbiology, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
ELIXIR Norway, Department of Informatics, University of Oslo, 0316 Oslo, Norway.
ORCID: 0000-0002-0826-9464

Sigrid S Skånland (SS)

K. G. Jebsen Centre for B Cell Malignancies and K. G. Jebsen Centre for Cancer Immunotherapy, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.
Department of Cancer Immunology, Institute for Cancer Research, Oslo University Hospital, 0310 Oslo, Norway.
ORCID: 0000-0003-1630-356X

Kimia T Maleki (KT)

Center for Infectious Medicine, Department of Medicine Huddinge, Karolinska Institutet, Karolinska University Hospital, 171 77 Stockholm, Sweden.
ORCID: 0000-0001-5382-5477

Martin Cornillet (M)

Center for Infectious Medicine, Department of Medicine Huddinge, Karolinska Institutet, Karolinska University Hospital, 171 77 Stockholm, Sweden.
ORCID: 0000-0001-7981-0927

Kjetil Taskén (K)

Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.
K. G. Jebsen Centre for B Cell Malignancies and K. G. Jebsen Centre for Cancer Immunotherapy, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.
Department of Cancer Immunology, Institute for Cancer Research, Oslo University Hospital, 0310 Oslo, Norway.
ORCID: 0000-0003-2841-4697

Andre Franke (A)

Institute of Clinical Molecular Biology, Kiel University, 24118 Kiel, Germany.

Tom H Karlsen (TH)

Norwegian PSC Research Center, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.
Section for Gastroenterology, Department of Transplantation Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.

Niklas K Björkström (NK)

Center for Infectious Medicine, Department of Medicine Huddinge, Karolinska Institutet, Karolinska University Hospital, 171 77 Stockholm, Sweden.
ORCID: 0000-0002-0967-076X

Espen Melum (E)

Norwegian PSC Research Center, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway. espen.melum@medisin.uio.no.
Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0318 Oslo, Norway.
Section for Gastroenterology, Department of Transplantation Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, 0424 Oslo, Norway.
Hybrid Technology Hub-Centre of Excellence, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, 0317 Oslo, Norway.
ORCID: 0000-0001-6903-6878

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Antigènes de différenciation › Antigènes CD › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Maladies de l'appareil digestif › Maladie des voies biliaires › Maladies des canaux biliaires › Angiocholite › Angiocholite sclérosante › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Ciblage de gène › Techniques de knock-in de gènes › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Cellules › Cellules germinales › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Lymphokines › Facteurs d'activation des macrophages › Interféron gamma › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Sémaphorines › A heterozygous germline CD100 mutation in a...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › A heterozygous germline CD100 mutation in a...