Osteogenesis Imperfecta Type I-IV, the Collagenous Disorder of Connective Tissue in Czech Population

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9237" target="_blank" >RIV/00216208:11110/11:9237 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/67985807:_____/11:00373487

Výsledek na webu

<a href="http://www.ejbi.eu/images/2011-1/Sormova_en.pdf" target="_blank" >http://www.ejbi.eu/images/2011-1/Sormova_en.pdf</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Osteogenesis Imperfecta Type I-IV, the Collagenous Disorder of Connective Tissue in Czech Population

Popis výsledku v původním jazyce

Background: Osteogenesis imperfecta is an inherited disorder particularily of a human connective tissue. It is a worldwide extensive disorder regardless of age, gender or ethnic group. At present the disease includes nine clinically different types. Typical clinical features are brittle bones, high frequency of fractures and bone deformities. The other observed signs are blue sclera, dentinogenesis imperfect and otosclerosis. The first four types of the disease arise from mutations in collagen type I genes, composed from COL1A1 and COL1A2 chains. A result of these mutations is the production of shortened or structurally defective protein. Individuals affected by OI forms V to IX have mutations in proteins encoded by following genes: CRTAP, LEPRE1, PPIB, FKBP10. Collagenous types of the illness exhibit a broad range of severity depending on type and mutation localization in the structure of the collagen type I. Objectives and Methods: The aim of this study is the description of the clin

Název v anglickém jazyce

Osteogenesis Imperfecta Type I-IV, the Collagenous Disorder of Connective Tissue in Czech Population

Popis výsledku anglicky

Background: Osteogenesis imperfecta is an inherited disorder particularily of a human connective tissue. It is a worldwide extensive disorder regardless of age, gender or ethnic group. At present the disease includes nine clinically different types. Typical clinical features are brittle bones, high frequency of fractures and bone deformities. The other observed signs are blue sclera, dentinogenesis imperfect and otosclerosis. The first four types of the disease arise from mutations in collagen type I genes, composed from COL1A1 and COL1A2 chains. A result of these mutations is the production of shortened or structurally defective protein. Individuals affected by OI forms V to IX have mutations in proteins encoded by following genes: CRTAP, LEPRE1, PPIB, FKBP10. Collagenous types of the illness exhibit a broad range of severity depending on type and mutation localization in the structure of the collagen type I. Objectives and Methods: The aim of this study is the description of the clin

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FM - Hygiena

OECD FORD obor

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Projekt

<a href="/cs/project/1M06014" target="_blank" >1M06014: Centrum biomedicínské informatiky (CBI)</a><br>

Návaznosti

S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2011

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

European Journal for Biomedical Informatics

ISSN

1801-5603

e-ISSN

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Svazek periodika

7

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

6

Strana od-do

59-64

Kód UT WoS článku

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EID výsledku v databázi Scopus

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