Literature DB >> 36118543

ABCA3 mutations in adults with interstitial lung disease: is there a link?

Ramcés Falfán-Valencia1.   

Abstract

Entities:  

Year:  2022        PMID： 36118543      PMCID： PMC9437763          DOI： 10.36141/svdld.v39i2.13370

Source DB:  PubMed          Journal:  Sarcoidosis Vasc Diffuse Lung Dis        ISSN： 1124-0490            Impact factor:   1.803


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  7 in total

1.  Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.

Authors:  Kathryn K Xu; Daniel J Wegner; Lucille C Geurts; Hillary B Heins; Ping Yang; Aaron Hamvas; Pirooz Eghtesady; Stuart C Sweet; F Sessions Cole; Jennifer A Wambach
Journal:  Pediatr Pulmonol       Date:  2022-03-17

2.  Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Authors:  Jennifer A Wambach; Alicia M Casey; Martha P Fishman; Daniel J Wegner; Susan E Wert; F Sessions Cole; Aaron Hamvas; Lawrence M Nogee
Journal:  Am J Respir Crit Care Med       Date:  2014-06-15       Impact factor: 21.405

3.  Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.

Authors:  Jennifer A Wambach; Ping Yang; Daniel J Wegner; Hillary B Heins; Lyudmila N Kaliberova; Sergey A Kaliberov; David T Curiel; Frances V White; Aaron Hamvas; Brian P Hackett; F Sessions Cole
Journal:  Am J Respir Cell Mol Biol       Date:  2016-11       Impact factor: 6.914

Review 4.  ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.

Authors:  Dymph Klay; Mark G J P Platenburg; Rein H N A J van Rijswijk; Jan C Grutters; Coline H M van Moorsel
Journal:  Curr Opin Pulm Med       Date:  2020-05       Impact factor: 3.155

5.  Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

Authors:  Meghan A Coghlan; Adrian Shifren; Howard J Huang; Tonya D Russell; Robi D Mitra; Qunyuan Zhang; Daniel J Wegner; F Sessions Cole; Aaron Hamvas
Journal:  BMJ Open Respir Res       Date:  2014-12-10

6.  Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report.

Authors:  Waleed Shaaban; Majeda Hammoud; Ali Abdulraheem; Yasser Yahia Elsayed; Nawal Alkazemi
Journal:  J Med Case Rep       Date:  2021-02-02

7.  Genes with monoallelic expression contribute disproportionately to genetic diversity in humans.

Authors:  Virginia Savova; Sung Chun; Mashaal Sohail; Ruth B McCole; Robert Witwicki; Lisa Gai; Tobias L Lenz; C-Ting Wu; Shamil R Sunyaev; Alexander A Gimelbrant
Journal:  Nat Genet       Date:  2016-01-25       Impact factor: 38.330
  7 in total

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