Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up-Reference-Cited by-同舟云学术

Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up

Published:2016-09-01 Issue:9 Volume:128 Page:1306-1308
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Kammermeier Jochen¹,Lucchini Giovanna²,Pai Sung-Yun³,Worth Austen²,Rampling Dyanne⁴,Amrolia Persis²,Silva Juliana²,Chiesa Robert²,Rao Kanchan²,Noble-Jamieson Gabriele⁵,Gasparetto Marco⁵,Ellershaw Drew⁶,Uhlig Holm⁷,Sebire Neil⁴,Elawad Mamoun⁸,Notarangelo Luigi⁹,Shah Neil⁸,Veys Paul²

Affiliation:

1. Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United Kingdom;

2. Department of Immunology and Bone Marrow Transplantation, Great Ormond Street Hospital, London, United Kingdom;

3. Division of Hematology-Oncology, Boston Children’s Hospital, Boston, MA;

4. Department of Histopathology, Great Ormond Street Hospital, London, United Kingdom;

5. Department of Paediatric Gastroenterology, Addenbrooke's Hospital, Cambridge, United Kingdom;

6. North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, United Kingdom;

7. Transitional Gastroenterology Unit, Nuffield Department of Medicine and Department of Paediatrics, University of Oxford, Oxford, United Kingdom;

8. Department of Gastroenterology, Great Ormond Street Hospital, London, United Kingdom; and

9. Division of Immunology, Boston Children’s Hospital, Boston, MA

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/128/9/1306/1398953/1306.pdf

Reference18 articles.

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2. PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity.;Nakatsu;J Cell Biol,2012

3. Assembly of the PtdIns 4-kinase Stt4 complex at the plasma membrane requires Ypp1 and Efr3.;Baird;J Cell Biol,2008

4. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.;Samuels;J Med Genet,2013

5. Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.;Woutsas;Blood,2015

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