Literature DB >> 27418642

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

Jochen Kammermeier1, Giovanna Lucchini2, Sung-Yun Pai3, Austen Worth2, Dyanne Rampling4, Persis Amrolia2, Juliana Silva2, Robert Chiesa2, Kanchan Rao2, Gabriele Noble-Jamieson5, Marco Gasparetto5, Drew Ellershaw6, Holm Uhlig7, Neil Sebire4, Mamoun Elawad8, Luigi Notarangelo9, Neil Shah8, Paul Veys2.   

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Year:  2016        PMID： 27418642     DOI： 10.1182/blood-2016-01-696385

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  19 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.  Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.

Authors:  Sasha Jardine; Sierra Anderson; Stephen Babcock; Gabriella Leung; Jie Pan; Neel Dhingani; Neil Warner; Conghui Guo; Iram Siddiqui; Daniel Kotlarz; James J Dowling; Roman A Melnyk; Scott B Snapper; Christoph Klein; Jay R Thiagarajah; Aleixo M Muise
Journal:  Gastroenterology       Date:  2019-11-16       Impact factor: 22.682

Review 3.  Linking Genetic Diagnosis to Therapeutic Approach in Very Early Onset Inflammatory Bowel Disease: Pharmacologic Considerations.

Authors:  Anne E Levine; Hengqi B Zheng; David L Suskind
Journal:  Paediatr Drugs       Date:  2022-04-25       Impact factor: 3.022

Review 4.  Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.

Authors:  Aline Azabdaftari; Kelsey D J Jones; Jochen Kammermeier; Holm H Uhlig
Journal:  Hum Genet       Date:  2022-06-28       Impact factor: 4.132

5.  Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants.

Authors:  Yun-E Chen; Jingfang Chen; Wenxing Guo; Yanhong Zhang; Jialing Li; Hui Xie; Tong Shen; Yunsheng Ge; Yanru Huang; Wenying Zheng; Mei Lu
Journal:  Front Genet       Date:  2022-06-16       Impact factor: 4.772

Review 6.  Interrogating host immunity to predict treatment response in inflammatory bowel disease.

Authors:  Jonathan L Digby-Bell; Raja Atreya; Giovanni Monteleone; Nick Powell
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2019-11-25       Impact factor: 46.802

7.  Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.

Authors:  Reyin Lien; Yung-Feng Lin; Min-Wei Lai; Hui-Ying Weng; Ren-Chin Wu; Tang-Her Jaing; Jing-Long Huang; Shih-Feng Tsai; Wen-I Lee
Journal:  Front Immunol       Date:  2017-09-07       Impact factor: 7.561

Review 8.  Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.

Authors:  Julia Pazmandi; Artem Kalinichenko; Rico Chandra Ardy; Kaan Boztug
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

Review 9.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

Review 10.  TTC7A: Steward of Intestinal Health.

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