Literature DB >> 31814065

TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.

James J Ashton1,2, Enrico Mossotto1,3, R Mark Beattie2, Sarah Ennis4.   

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Year:  2019        PMID： 31814065     DOI： 10.1007/s10875-019-00726-0

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.542


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  5 in total

1.  Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.

Authors:  Jessica R Saunders; Anna Lehman; Stuart E Turvey; Jie Pan; Evica Rajcan-Separovic; Aleixo M Muise; Jonathan W Bush
Journal:  J Clin Immunol       Date:  2019-07-24       Impact factor: 8.317

2.  Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

Authors:  Dylan Lawless; Anoop Mistry; Philip M Wood; Jens Stahlschmidt; Gururaj Arumugakani; Mark Hull; David Parry; Rashida Anwar; Clive Carter; Sinisa Savic
Journal:  J Clin Immunol       Date:  2017-08-14       Impact factor: 8.317

3.  Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.

Authors:  James J Ashton; Gaia Andreoletti; Tracy Coelho; Rachel Haggarty; Akshay Batra; Nadeem A Afzal; R Mark Beattie; Sarah Ennis
Journal:  Inflamm Bowel Dis       Date:  2016-10       Impact factor: 5.325

4.  GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.

Authors:  E Mossotto; J J Ashton; L O'Gorman; R J Pengelly; R M Beattie; B D MacArthur; S Ennis
Journal:  BMC Bioinformatics       Date:  2019-05-16       Impact factor: 3.169

Review 5.  TTC7A: Steward of Intestinal Health.

Authors:  Sasha Jardine; Neel Dhingani; Aleixo M Muise
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2018-12-13
  5 in total
  1 in total

1.  Evidence of a genetically driven metabolomic signature in actively inflamed Crohn's disease.

Authors:  Enrico Mossotto; Joanna Boberska; James J Ashton; Imogen S Stafford; Guo Cheng; Jonathan Baker; Florina Borca; Hang T T Phan; Tracy F Coelho; R Mark Beattie; Sandrine P Claus; Sarah Ennis
Journal:  Sci Rep       Date:  2022-08-18       Impact factor: 4.996
  1 in total

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