Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy-Reference-Cited by-同舟云学术

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Published:2018-09 Issue: Volume:114 Page:268-277
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Lindahl Katarina,Åström Eva,Dragomir Anca,Symoens Sofie,Coucke Paul,Larsson Sune,Paschalis Eleftherios,Roschger Paul,Gamsjaeger Sonja,Klaushofer Klaus,Fratzl-Zelman Nadja,Kindmark Andreas

Funder

Bioinformatics Infrastructure for Life Sciences

Swedish Endocrine Society

Stockholm County Council

Karolinska Institutet

Norrbacka-Eugenia Foundation

Research funds of the Austrian workers' compensation board

Vienna Regional Health Insurance Fund

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference54 articles.

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3. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans;Symoens;Orphanet J. Rare Dis.,2013

4. Diacylglycerol kinase zeta (DGKzeta) is a critical regulator of bone homeostasis via modulation of c-Fos levels in osteoclasts;Zamani;J. Bone Miner. Res.,2015

5. Alternative splicing of the human diacylglycerol kinase zeta gene in muscle;Ding;Proc. Natl. Acad. Sci. U. S. A.,1997

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