Type I Collagen

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The Experts below are selected from a list of 315 Experts worldwide ranked by ideXlab platform

Kunio Shirai - One of the best experts on this subject based on the ideXlab platform.

Yoshihiro Nomura - One of the best experts on this subject based on the ideXlab platform.

Yasuhiro Ishii - One of the best experts on this subject based on the ideXlab platform.

Charlotte Gistelinck - One of the best experts on this subject based on the ideXlab platform.

  • zebrafIsh Type I Collagen mutants faIthfully recapItulate human Type I CollagenopathIes
    Proceedings of the National Academy of Sciences of the United States of America, 2018
    Co-Authors: Charlotte Gistelinck, Ronald Y Kwon, Fransiska Malfait, Sofie Symoens, Matthew P Harris, Katrin Henke, Michael Brent Hawkins
    Abstract:

    The Type I CollagenopathIes are a group of heterogeneous connectIve tIssue dIsorders, that are caused by mutatIons In the genes encodIng Type I Collagen and Include specIfIc forms of osteogenesIs Imperfecta (OI) and the Ehlers–Danlos syndrome (EDS). These dIsorders present wIth a broad dIsease spectrum and large clInIcal varIabIlIty of whIch the underlyIng genetIc basIs Is stIll poorly understood. In thIs study, we systematIcally analyzed skeletal phenoTypes In a large set of zebrafIsh, wIth dIverse mutatIons In the genes encodIng Type I Collagen, representIng dIfferent genetIc forms of human OI, and a zebrafIsh model resemblIng human EDS, whIch harbors a number of soft connectIve tIssues defects, typIcal of EDS. Furthermore, we provIde InsIght Into how zebrafIsh and human Type I Collagen are composItIonally and functIonally related, whIch Is relevant In the InterpretatIon of human Type I Collagen-related dIsease models. Our studIes reveal a hIgh degree of IntergenoType varIabIlIty In phenotypIc expressIvIty that closely correlates wIth assocIated OI severIty. Furthermore, we demonstrate the potentIal for select mutatIons to gIve rIse to phenotypIc varIabIlIty, mIrrorIng the clInIcal varIabIlIty assocIated wIth human dIsease pathology. Therefore, our work suggests the future potentIal for zebrafIsh to aId In IdentIfyIng unknown genetIc modIfIers and mechanIsms underlyIng the phenotypIc varIabIlIty In OI and related dIsorders. ThIs wIll Improve dIagnostIc strategIes and enable the dIscovery of new targetable pathways for pharmacologIcal InterventIon.

  • zebrafIsh Type I Collagen mutants faIthfully recapItulate human Type I CollagenopathIes
    bioRxiv, 2018
    Co-Authors: Charlotte Gistelinck, Ronald Y Kwon, Fransiska Malfait, Sofie Symoens, Matthew P Harris, Katrin Henke, Shannon Fisher, Patrick Sips, Brecht Guillemyn, Jan Willem Bek
    Abstract:

    The Type I CollagenopathIes are a group of heterogeneous connectIve tIssue dIsorders, that are caused by mutatIons In the genes encodIng Type I Collagen and Include specIfIc forms of OsteogenesIs Imperfecta (OI) and the Ehlers-Danlos syndrome (EDS). These dIsorders present wIth a broad dIsease spectrum and large clInIcal varIabIlIty of whIch the underlyIng genetIc basIs Is stIll poorly understood. In thIs study, we systematIcally analyzed skeletal phenoTypes In a large set of zebrafIsh, wIth dIverse mutatIons In the genes encodIng Type I Collagen, representIng dIfferent genetIc forms of human OI, and the fIrst zebrafIsh model of human EDS, whIch harbors characterIstIc defects In the soft connectIve tIssues. Furthermore, we provIde InsIght Into how zebrafIsh and human Type I Collagen are composItIonally and functIonally related, whIch Is relevant In the InterpretatIon of human Type I Collagen related dIsease models. Our studIes reveal a hIgh degree of Inter-genoType varIabIlIty In phenotypIc expressIvIty that closely correlates wIth assocIated OI severIty. Further, we demonstrate the potentIal for select mutatIons to gIve rIse to varIable phenotypIc penetrance, mIrrorIng the clInIcal varIabIlIty assocIated wIth human dIsease pathology. Therefore, our work suggests the potentIal for zebrafIsh to aId In IdentIfyIng unknown genetIc modIfIers and mechanIsms underlyIng the phenotypIc varIabIlIty In OI and related dIsorders. ThIs wIll Improve dIagnostIc strategIes and enable the dIscovery of new targetable pathways for pharmacologIcal InterventIon.

Shinzi Toki - One of the best experts on this subject based on the ideXlab platform.

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