Literature DB >> 23504366

Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.

Kameswara Rao Badri, Ling Gao, Elizabeth Hyjek, Noa Schuger, Lucia Schuger, Wei Qin, Yvonne Chekaluk, David J Kwiatkowski, Xiaoning Zhe.   

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Year:  2013        PMID： 23504366      PMCID： PMC3733437          DOI： 10.1164/ajrccm.187.6.663

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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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.  Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

Authors:  Teruhiko Sato; Kuniaki Seyama; Hiroaki Fujii; Hiroshi Maruyama; Yasuhiro Setoguchi; Shin-ichiro Iwakami; Yoshinosuke Fukuchi; Okio Hino
Journal:  J Hum Genet       Date:  2002       Impact factor: 3.172

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

4.  The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis.

Authors:  Angelo M Taveira-DaSilva; Gustavo Pacheco-Rodriguez; Joel Moss
Journal:  Lymphat Res Biol       Date:  2010-03       Impact factor: 2.589

5.  Emerging clinical picture of lymphangioleiomyomatosis.

Authors:  M M Cohen; S Pollock-BarZiv; S R Johnson
Journal:  Thorax       Date:  2005-07-29       Impact factor: 9.139

6.  Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis.

Authors:  Denise M Crooks; Gustavo Pacheco-Rodriguez; Rosamma M DeCastro; J Philip McCoy; Ji-an Wang; Fumiyuki Kumaki; Thomas Darling; Joel Moss
Journal:  Proc Natl Acad Sci U S A       Date:  2004-12-06       Impact factor: 11.205

7.  Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM).

Authors:  Elena A Goncharova; Dmitry A Goncharov; Andrew Eszterhas; Deborah S Hunter; Marilyn K Glassberg; Raymond S Yeung; Cheryl L Walker; Daniel Noonan; David J Kwiatkowski; Margaret M Chou; Reynold A Panettieri; Vera P Krymskaya
Journal:  J Biol Chem       Date:  2002-06-03       Impact factor: 5.157

8.  Markers of cell proliferation and expression of melanosomal antigen in lymphangioleiomyomatosis.

Authors:  Y Matsumoto; K Horiba; J Usuki; S C Chu; V J Ferrans; J Moss
Journal:  Am J Respir Cell Mol Biol       Date:  1999-09       Impact factor: 6.914

Review 9.  Lymphangioleiomyomatosis: A review.

Authors:  Donald W Hohman; Dena Noghrehkar; Saman Ratnayake
Journal:  Eur J Intern Med       Date:  2007-12-26       Impact factor: 4.487

Review 10.  Lymphangioleiomyomatosis: a clinical update.

Authors:  Francis X McCormack
Journal:  Chest       Date:  2008-02       Impact factor: 9.410
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  32 in total

Review 1.  The Lymphangioleiomyomatosis Lung Cell and Its Human Cell Models.

Authors:  Wendy K Steagall; Gustavo Pacheco-Rodriguez; Thomas N Darling; Olga Torre; Sergio Harari; Joel Moss
Journal:  Am J Respir Cell Mol Biol       Date:  2018-06       Impact factor: 6.914

Review 2.  New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.

Authors:  Hilaire C Lam; Julie Nijmeh; Elizabeth P Henske
Journal:  J Pathol       Date:  2016-11-29       Impact factor: 7.996

Review 3.  The Genetics of Pneumothorax.

Authors:  Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby
Journal:  Am J Respir Crit Care Med       Date:  2019-06-01       Impact factor: 21.405

4.  Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

Authors:  Reinhard Zech; Stephan Kiontke; Uwe Mueller; Andrea Oeckinghaus; Daniel Kümmel
Journal:  J Biol Chem       Date:  2016-08-04       Impact factor: 5.157

5.  Alterations in Polyamine Metabolism in Patients With Lymphangioleiomyomatosis and Tuberous Sclerosis Complex 2-Deficient Cells.

Authors:  Yan Tang; Souheil El-Chemaly; Angelo Taveira-Dasilva; Hilary J Goldberg; Shefali Bagwe; Ivan O Rosas; Joel Moss; Carmen Priolo; Elizabeth P Henske
Journal:  Chest       Date:  2019-07-09       Impact factor: 9.410

6.  Tuberous sclerosis complex 2 loss increases lysophosphatidylcholine synthesis in lymphangioleiomyomatosis.

Authors:  Carmen Priolo; Stéphane J H Ricoult; Damir Khabibullin; Harilaos Filippakis; Jane Yu; Brendan D Manning; Clary Clish; Elizabeth P Henske
Journal:  Am J Respir Cell Mol Biol       Date:  2015-07       Impact factor: 6.914

Review 7.  mTOR in Lung Neoplasms.

Authors:  Ildiko Krencz; Anna Sebestyen; Andras Khoor
Journal:  Pathol Oncol Res       Date:  2020-02-03       Impact factor: 3.201

8.  Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management.

Authors:  Francis X McCormack; Nishant Gupta; Geraldine R Finlay; Lisa R Young; Angelo M Taveira-DaSilva; Connie G Glasgow; Wendy K Steagall; Simon R Johnson; Steven A Sahn; Jay H Ryu; Charlie Strange; Kuniaki Seyama; Eugene J Sullivan; Robert M Kotloff; Gregory P Downey; Jeffrey T Chapman; MeiLan K Han; Jeanine M D'Armiento; Yoshikazu Inoue; Elizabeth P Henske; John J Bissler; Thomas V Colby; Brent W Kinder; Kathryn A Wikenheiser-Brokamp; Kevin K Brown; Jean F Cordier; Cristopher Meyer; Vincent Cottin; Jan L Brozek; Karen Smith; Kevin C Wilson; Joel Moss
Journal:  Am J Respir Crit Care Med       Date:  2016-09-15       Impact factor: 21.405

9.  In pulmonary lymphangioleiomyomatosis expression of progesterone receptor is frequently higher than that of estrogen receptor.

Authors:  Ling Gao; Michael M Yue; Jennifer Davis; Elisabeth Hyjek; Lucia Schuger
Journal:  Virchows Arch       Date:  2014-02-26       Impact factor: 4.064

10.  Lymphatic endothelial differentiation in pulmonary lymphangioleiomyomatosis cells.

Authors:  Jennifer M Davis; Elizabeth Hyjek; Aliya N Husain; Le Shen; Jennifer Jones; Lucia A Schuger
Journal:  J Histochem Cytochem       Date:  2013-04-22       Impact factor: 2.479
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