Literature DB >> 31273045

Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.

Barbara Ogórek1, Lana Hamieh1, Kathryn Lasseter1, Shefali Bagwe1, Tania Machado2, Carmen Herranz-Ors3, Aaron R Thorner4, Anwesha Nag4, Peter Gulleman5, Krinio Giannikou1, Lisa R Young5, Miquel Àngel Pujana3, Thomas N Darling6, Souheil El-Chemaly1, Joel Moss2, Elizabeth P Henske1, David J Kwiatkowski7.   

Abstract

Entities:  

Year:  2019        PMID： 31273045      PMCID： PMC7340110          DOI： 10.1183/13993003.00938-2019

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  14 in total

1.  Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

Authors:  T Carsillo; A Astrinidis; E P Henske
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-23       Impact factor: 11.205

2.  Molecular basis of giant cells in tuberous sclerosis complex.

Authors:  David J Kwiatkowski; Brendan D Manning
Journal:  N Engl J Med       Date:  2014-08-21       Impact factor: 91.245

3.  Efficacy and safety of sirolimus in lymphangioleiomyomatosis.

Authors:  Francis X McCormack; Yoshikazu Inoue; Joel Moss; Lianne G Singer; Charlie Strange; Koh Nakata; Alan F Barker; Jeffrey T Chapman; Mark L Brantly; James M Stocks; Kevin K Brown; Joseph P Lynch; Hilary J Goldberg; Lisa R Young; Brent W Kinder; Gregory P Downey; Eugene J Sullivan; Thomas V Colby; Roy T McKay; Marsha M Cohen; Leslie Korbee; Angelo M Taveira-DaSilva; Hye-Seung Lee; Jeffrey P Krischer; Bruce C Trapnell
Journal:  N Engl J Med       Date:  2011-03-16       Impact factor: 91.245

Review 4.  Pulmonary manifestations in tuberous sclerosis complex.

Authors:  Nishant Gupta; Elizabeth P Henske
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-07-28       Impact factor: 3.908

5.  Lymphangiogenesis-mediated shedding of LAM cell clusters as a mechanism for dissemination in lymphangioleiomyomatosis.

Authors:  Toshio Kumasaka; Kuniaki Seyama; Keiko Mitani; Sanae Souma; Satoko Kashiwagi; Akira Hebisawa; Teruhiko Sato; Hajime Kubo; Kiyoshi Gomi; Kazutoshi Shibuya; Yoshinosuke Fukuchi; Koichi Suda
Journal:  Am J Surg Pathol       Date:  2005-10       Impact factor: 6.394

6.  The first liquid biopsy test approved. Is it a new era of mutation testing for non-small cell lung cancer?

Authors:  Dorota Kwapisz
Journal:  Ann Transl Med       Date:  2017-02

7.  Lymphangioleiomyomatosis Diagnosis and Management: High-Resolution Chest Computed Tomography, Transbronchial Lung Biopsy, and Pleural Disease Management. An Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guideline.

Authors:  Nishant Gupta; Geraldine A Finlay; Robert M Kotloff; Charlie Strange; Kevin C Wilson; Lisa R Young; Angelo M Taveira-DaSilva; Simon R Johnson; Vincent Cottin; Steven A Sahn; Jay H Ryu; Kuniaki Seyama; Yoshikazu Inoue; Gregory P Downey; MeiLan K Han; Thomas V Colby; Kathryn A Wikenheiser-Brokamp; Cristopher A Meyer; Karen Smith; Joel Moss; Francis X McCormack
Journal:  Am J Respir Crit Care Med       Date:  2017-11-15       Impact factor: 21.405

8.  Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Authors:  Anika Bongaarts; Krinio Giannikou; Roy J Reinten; Jasper J Anink; James D Mills; Floor E Jansen; G M Wim Spliet; Willfred F A den Dunnen; Roland Coras; Ingmar Blümcke; Werner Paulus; Theresa Scholl; Martha Feucht; Katarzyna Kotulska; Sergiusz Jozwiak; Anna Maria Buccoliero; Chiara Caporalini; Flavio Giordano; Lorenzo Genitori; Figen Söylemezoğlu; José Pimentel; Mark Nellist; Antoinette Y N Schouten-van Meeteren; Anwesha Nag; Angelika Mühlebner; David J Kwiatkowski; Eleonora Aronica
Journal:  Oncotarget       Date:  2017-09-08

9.  Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Authors:  Magdalena E Tyburczy; Kira A Dies; Jennifer Glass; Susana Camposano; Yvonne Chekaluk; Aaron R Thorner; Ling Lin; Darcy Krueger; David N Franz; Elizabeth A Thiele; Mustafa Sahin; David J Kwiatkowski
Journal:  PLoS Genet       Date:  2015-11-05       Impact factor: 5.917

10.  Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Authors:  Viktor A Adalsteinsson; Gavin Ha; Samuel S Freeman; Atish D Choudhury; Daniel G Stover; Heather A Parsons; Gregory Gydush; Sarah C Reed; Denisse Rotem; Justin Rhoades; Denis Loginov; Dimitri Livitz; Daniel Rosebrock; Ignaty Leshchiner; Jaegil Kim; Chip Stewart; Mara Rosenberg; Joshua M Francis; Cheng-Zhong Zhang; Ofir Cohen; Coyin Oh; Huiming Ding; Paz Polak; Max Lloyd; Sairah Mahmud; Karla Helvie; Margaret S Merrill; Rebecca A Santiago; Edward P O'Connor; Seong H Jeong; Rachel Leeson; Rachel M Barry; Joseph F Kramkowski; Zhenwei Zhang; Laura Polacek; Jens G Lohr; Molly Schleicher; Emily Lipscomb; Andrea Saltzman; Nelly M Oliver; Lori Marini; Adrienne G Waks; Lauren C Harshman; Sara M Tolaney; Eliezer M Van Allen; Eric P Winer; Nancy U Lin; Mari Nakabayashi; Mary-Ellen Taplin; Cory M Johannessen; Levi A Garraway; Todd R Golub; Jesse S Boehm; Nikhil Wagle; Gad Getz; J Christopher Love; Matthew Meyerson
Journal:  Nat Commun       Date:  2017-11-06       Impact factor: 14.919
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  1 in total

1.  Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Authors:  Jiannan Huang; Wenshuai Xu; Peng Liu; Yaping Liu; Cheng Shen; Song Liu; Yani Wang; Jun Wang; Tengyue Zhang; Yudi He; Chongsheng Cheng; Luning Yang; Weihong Zhang; Xinlun Tian; Kai-Feng Xu
Journal:  BMC Pulm Med       Date:  2022-09-18       Impact factor: 3.320
  1 in total

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