Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome-Reference-Cited by-同舟云学术

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Published:2021-06 Issue:6 Volume:108 Page:1095-1114
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Pottie Lore,Adamo Christin S.,Beyens Aude,Lütke Steffen,Tapaneeyaphan Piyanoot,De Clercq Adelbert,Salmon Phil L.,De Rycke Riet,Gezdirici Alper,Gulec Elif Yilmaz,Khan Naz,Urquhart Jill E.,Newman William G.,Metcalfe Kay,Efthymiou Stephanie,Maroofian Reza,Anwar Najwa,Maqbool Shazia,Rahman Fatima,Altweijri Ikhlass,Alsaleh Monerah,Abdullah Sawsan Mohamed,Al-Owain Mohammad,Hashem Mais,Houlden Henry,Alkuraya Fowzan S.,Sips Patrick,Sengle Gerhard,Callewaert Bert^ORCID

Funder

Deutsche Forschungsgemeinschaft

NIHR Manchester Biomedical Research Centre

MRC

Horizon 2020 Marie Skłodowska-Curie Actions

Wellcome Trust

Research Foundation Flanders

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference82 articles.

1. LTBPs in biology and medicine: LTBP diseases;Rifkin;Matrix Biol.,2018

2. Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta;Saharinen;Mol. Biol. Cell,2000

3. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein;Isogai;J. Biol. Chem.,2003

4. Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites;Ono;J. Biol. Chem.,2009

5. LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein;Hirani;Matrix Biol.,2007

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