Literature DB >> 26467156

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.

S Moosa1,2,3,4, B H-Y Chung5, J Y-L Tung5, J Altmüller1,6, H Thiele6, P Nürnberg3,4,6, C Netzer1, G Nishimura7, B Wollnik1,2,3,4.   

Abstract

Entities:  

Year:  2015        PMID： 26467156     DOI： 10.1111/cge.12678

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

Review 1.  Key roles of Arf small G proteins and biosynthetic trafficking for animal development.

Authors:  Francisco F Rodrigues; Tony J C Harris
Journal:  Small GTPases       Date:  2017-04-17

2.  Dynamic Glycosylation Governs the Vertebrate COPII Protein Trafficking Pathway.

Authors:  Nathan J Cox; Gokhan Unlu; Brittany J Bisnett; Thomas R Meister; Brett M Condon; Peter M Luo; Timothy J Smith; Michael Hanna; Abhishek Chhetri; Erik J Soderblom; Anjon Audhya; Ela W Knapik; Michael Boyce
Journal:  Biochemistry       Date:  2017-12-15       Impact factor: 3.162

3.  Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.

Authors:  H Zhang; H Yue; C Wang; J Gu; J He; W Fu; W Hu; Z Zhang
Journal:  Osteoporos Int       Date:  2016-12-10       Impact factor: 4.507

Review 4.  Value of rare low bone mass diseases for osteoporosis genetics.

Authors:  Alice Costantini; Outi Mäkitie
Journal:  Bonekey Rep       Date:  2016-01-06

5.  The COPII cargo adapter SEC24C is essential for neuronal homeostasis.

Authors:  Bo Wang; Joung Hyuck Joo; Rebecca Mount; Brett J W Teubner; Alison Krenzer; Amber L Ward; Viraj P Ichhaporia; Elizabeth J Adams; Rami Khoriaty; Samuel T Peters; Shondra M Pruett-Miller; Stanislav S Zakharenko; David Ginsburg; Mondira Kundu
Journal:  J Clin Invest       Date:  2018-06-25       Impact factor: 14.808

6.  ER-to-Golgi trafficking of procollagen in the absence of large carriers.

Authors:  Janine McCaughey; Nicola L Stevenson; Stephen Cross; David J Stephens
Journal:  J Cell Biol       Date:  2018-12-26       Impact factor: 10.539

7.  Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial.

Authors:  Arantza Infante; Blanca Gener; Miguel Vázquez; Nerea Olivares; Arantza Arrieta; Gema Grau; Isabel Llano; Luis Madero; Ana Maria Bueno; Belén Sagastizabal; Daniela Gerovska; Marcos J Araúzo-Bravo; Itziar Astigarraga; Clara I Rodríguez
Journal:  Clin Transl Med       Date:  2021-01

Review 8.  Export Control: Post-transcriptional Regulation of the COPII Trafficking Pathway.

Authors:  Brittany J Bisnett; Brett M Condon; Caitlin H Lamb; George R Georgiou; Michael Boyce
Journal:  Front Cell Dev Biol       Date:  2021-01-12

9.  Histopathology of osteogenesis imperfecta bone. Supramolecular assessment of cells and matrices in the context of woven and lamellar bone formation using light, polarization and ultrastructural microscopy.

Authors:  Frederic Shapiro; Kathleen Maguire; Srilatha Swami; Hui Zhu; Evelyn Flynn; Jamie Wang; Joy Y Wu
Journal:  Bone Rep       Date:  2020-12-01

10.  Noncanonical autophagy at ER exit sites regulates procollagen turnover.

Authors:  Shakib Omari; Elena Makareeva; Anna Roberts-Pilgrim; Lynn Mirigian; Michal Jarnik; Carolyn Ott; Jennifer Lippincott-Schwartz; Sergey Leikin
Journal:  Proc Natl Acad Sci U S A       Date:  2018-10-04       Impact factor: 11.205
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