Links to the websites of some of the journals can be found in at the side of this page

Patient Series

Ryu JH, Moss J, Beck GJ, Lee JC, Brown KK, Chapman JT, Finlay GA, Olson EJ, Ruoss SJ, Maurer JR, Raffin TA, Peavy HH, McCarthy K, Taveira-DaSilva A, McCormack FX, Avila NA, DeCastro RM, Jacobs SS, Stylianou M, Fanburg BL. The NHLBI Lymphangioleiomyomatosis Registry: Characteristics of 230 Patients at Enrollment. Am. J. Respir. Crit. Care Med. 2005; published ahead of print on October 6, 2005 as doi:10.1164/rccm.200409-1298OC.

Cohen MM, Pollock-Barziv S, Johnson S. The emerging clinical picture of lymphangioleiomyomatosis. Thorax. 2005 Jul 29.

Cordier, J.F. 1999. Pulmonary Lymphangioleiomyomatosis: A Study of 69 Patients. Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires GERM”O”P. Medicine, Sep;78(5):321-37.

Chu, S., K. Horiba, J. Usuki, N. Avila, C. Chen, W. Travis, V. Ferrans, and J. Moss. 1999. Comprehensive Evaluation of 35 Patients with Lymphangioleiomyomatosis. Chest, Apr; 115(4): 1041-52.

Review Articles

Glassberg MK. Lymphangioleiomyomatosis. Clin Chest Med. 2004 Sep;25(3):573-82, vii.

Johnson, S., 1999. Lymphangioleiomyomatosis: Clinical Features, Management and Basic Mechanisms. Thorax, 54:254-264.

McCormack FX, Young L.2004. Advances in Lymphangioleiomyomatosis. Pulmonary and Critical Care Update Online. V18.

Sietsema KE, McCormack FX. Lymphangioleiomyomatosis: insights about, and from, a rare disease. Am J Respir Crit Care Med. 2003 Dec 15;168(12):1405-6.

Kelly, J., and J. Moss. 2001. Lymphangioleiomyomatosis. Am J Med Sci. 321:17-25.

Sullivan, E.J. 1998. Lymphangioleiomyomatosis: A Review. Chest; 114:1689-1703.

Clinical Issues

Johnson SR, Whale CI, Hubbard RB, Lewis SA, Tattersfield AE. Survival and disease progression in UK patients with lymphangioleiomyomatosis. Thorax. 2004 Sep;59(9):800-3.

Taveira-Dasilva AM, Stylianou MP, Hedin CJ, Hathaway O, Moss J. Bone Mineral Density in Lymphangioleiomyomatosis (LAM). Am J Respir Crit Care Med. 2004 Oct 1.

Lazor R, Valeyre D, Lacronique J, Wallaert B, Urbane T, Cordier JF; The Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires. Low initial KCO predicts rapid FEV1 decline in pulmonary lymphangioleiomyomatosis. Respir Med. 2004 Jun;98(6):536-41.

Taveira-DaSilva AM, Stylianou MP, Hedin CJ, Kristof AS, Avila NA, Rabel A,Travis WD, Moss J. Maximal oxygen uptake and severity of disease in lymphangioleiomyomatosis. Am J Respir Crit Care Med. 2003 Sep

Cottin V, Vukusic S, Jouanneau E, Lazor R, Cordier JF. Should patients with lymphangioleiomyomatosis undergo screening for meningioma? Eur Respir J. 2004. Nov;24(5):888-9

Whale CI, Johnson SR, Phillips KG, Newton SA, Lewis SA, Tattersfield AE. Lymphangioleiomyomatosis: a case-control study of perinatal and early life events. Thorax. 2003 Nov; 58(11):979-82.

Oberstein EM, Fleming LE, Gomez-Marin O, Glassberg MK. Pulmonary lymphangioleiomyomatosis (LAM): examining oral contraceptive pills and the onset of disease. J Womens Health (Larchmt). 2003 Jan-Feb;12(1):81-5.

Avila, N.A., J. Bechtle, A.J. Dwyer, V.J. Ferrans, and J. Moss. 2001. Lymphangioleiomyomatosis: CT of Diurnal Variation of Lymphangioleiomyomas. Radiology. 221:415-421.

Moss, J., R. DeCastro, N.J. Patronas, and A. Taveira-DaSilva. 2001. Meningiomas in lymphangioleiomyomatosis. Jama. 286:1879-1881.

Taveira-DaSilva, A.M., C. Hedin, M.P. Stylianou, W.D. Travis, K. Matsui, V.J. Ferrans, and J. Moss. 2001. Reversible airflow obstruction, proliferation of abnormal smooth muscle cells, and impairment of gas exchange as predictors of outcome in lymphangioleiomyomatosis. Am J Respir Crit Care Med. 164:1072-1076.

Matsui K, Beasley MB, Nelson WK, Barnes PM, Bechtle J, Falk R, Ferrans VJ, Moss J, Travis WD. Prognostic Significance of Pulmonary Lymphangioleiomyomatosis Histologic Score. Am J Surg Pathol. 2001 Apr;25(4):479-484.

Avila NA., CC Chen, SC Chu, M Wu, EC Jones, RD Neumann, J Moss. Pulmonary lymphangioleiomyomatosis: correlation of ventilation-perfusion scintigraphy, chest radiography, and CT with pulmonary function tests. Radiology. 2000 Feb;214(2):441-6.

Pollock-BarZiv SM, Cohen MM, Maclean H, Downey GP. 2002. Canadian respirologists’ experience woth Lymphangioleiomyomatosis. Can Respir J, Nov-Dec; 9 (6): 413-6.

Avila, N.A., J.A. Kelly, S.C. Chu, A.J. Dwyer, and J. Moss. 2000. Lymphangioleiomyomatosis: abdominopelvic CT and US findings. Radiology, Jul; 216(1):147-53

TSC-LAM

Costello L.C., T.E. Hartman, and J. H. Ryu. 2000. High Frequency of Pulmonary Lymphangioleiomyomatosis in Women With Tuberous Sclerosis Complex. Mayo Clin Proc. 75:591-594.

Moss, J., N.A. Avila, P.M. Barnes, R.A. Litzenberger, J. Bechtle, P.G. Brooks, C.J. Hedin, S. Hunsberger, and A.S. Kristof. 2001. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med. 164:669-671.

Franz, DN, A Brody, C Meyer, J Leonard, G Chuck, S Dabora, G Sethuraman, T Colby, D Kwiatkowski, and FX. McCormack. Mutational and Radiographic Analysis of Pulmonary Disease Consistent with Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in Women with Tuberous Sclerosis. 2001. Am J Respir Crit Care Med Vol 164. pp 661-668.

Treatment

Johnson, SR., AE Tattersfield. 2000. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax. Dec;55(12):1052-1057.

Johnson, S., and A. Tattersfield. 1999. Decline in Lung Function in Lymphangioleiomyomatosis. Relation to Menopause and Progesterone treatment. Am J Respir Crit Care Med Aug 1;160 (2) 628-633.

Taveira-DaSilva AM, Stylianou MP, Hedin CJ, Hathaway O, Moss J: Decline in Lung Function in Patients With Lymphangioleiomyomatosis Treated With or Without Progesterone. Chest 2004, 126(6):1867-1874.

Pechet TT, Meyers BF, Guthrie TJ, Battafarano RJ, Trulock EP, Cooper JD, Patterson GA. Lung transplantation for lymphangioleiomyomatosis. J Heart Lung Transplant. 2004 Mar;23(3):301-8.

de Perrot M, Licker M, Robert J, Nicod L, Spiliopoulos A: Successful combined lung and kidney transplantation for pulmonary lymphangioleiomyomatosis and renal angiolipomas. Eur Respir J 1998, 12(6):1479-1481.

Rapamycin

Kenerson H, Dundon TA, Yeung RS. Effects of rapamycin in the Eker rat model of tuberous sclerosis complex. Pediatr Res. 2005 Jan;57(1):67-75.

Pathology

Crooks DM, Pacheco-Rodriguez G, DeCastro RM, McCoy JP, Jr., Wang J-a, Kumaki F, Darling T, Moss J: Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis. PNAS 2004:0407971101.

Astrinidis A, Henske EP. Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):710-5.

Zhe X, Schuger L. Combined smooth muscle and melanocytic differentiation in lymphangioleiomyomatosis. J Histochem Cytochem. 2004 Dec;52(12):1537-42

Zhe X, Yang Y, Schuger L. Imbalanced Plasminogen System in Lymphangioleiomyomatosis: Potential Role of Serum Response Factor. Am J Respir Cell Mol Biol. 2004 Oct 28.

Ferri N, Carragher NO, Raines EW. Role of discoidin domain receptors 1 and 2 in human smooth muscle cell-mediated collagen remodeling: potential implications in atherosclerosis and lymphangioleiomyomatosis. Am J Pathol. 2004 May;164(5):1575-85.

Evans SE, Colby TV, Ryu JH, Limper AH. Transforming growth factor-beta 1 and extracellular matrix-associated fibronectin expression in pulmonary lymphangioleiomyomatosis. Chest. 2004 Mar;125(3):1063-70.

El-Hashemite N, Zhang H, Henske EP, Kwiatkowski DJ. 2003. Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet 2003; 361: 1348-49.

Henske EP. Metastasis of benign tumor cells in tuberous sclerosis complex. Genes Chromosomes Cancer. 2003 Dec;38(4):376-81.

Zhe X, Yang, Y, Jakkaraju S, Schuger L. 2003. Tissue Inhibitor of Metalloproteinase-3 Downregulation in Lymphangioleiomyomatosis. Potential consequence of abnormal serum response factor expression. Am J Respir Cell Mol Biol. Vol 28 pp 504-511.

Karbowniczek M, Yu J, Henske EP. 2003. Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. Am J Pathol Feb;162(2):491-500

Karbowniczek M, Aristotelis A, Balsara BR, Testa JR, Lium JH, Colby TV, McCormack FX, Henske EP. 2002. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med. Vol 167. pp976-982.

Yu, J., A. Astrinidis, EP Henske. 2001. Chromosome 16 Loss of Heterozygosity in Tuberous Sclerous and Sporadic Lymphangiomyomatosis. Am J Respir Crit Care Med. 164:1537-1540.

Matsui K., K Takeda, ZX Yu, WD Travis, J Moss, VJ Ferrans. Role for activation of matrix metalloproteinases in the pathogenesis of pulmonary lymphangioleiomyomatosis. Arch Pathol Lab Med. 2000 Feb;124(2):267-75.

Matsui K., K Riemenschneider W, Hilbert SL, ZX Yu, K Takeda, WD Travis, J Moss, VJ Ferrans. Hyperplasia of type II pneumocytes in pulmonary lymphangioleiomyomatosis. Arch Pathol Lab Med. 2000 Nov;124(11):1642-8.

Matsui K., A Tatsuguchi, J Valencia, ZX Yu, J Bechtle, MB Beasley, N Avila, WD Travis, J Moss, VJ Ferrans. 2000. Extrapulmonary lymphangioleiomyomatosis (LAM): clinicopathologic features in 22 cases. Hum Pathol. Oct;31(10):1242-8.

Strizheva, GD., T. Carsillo, W. Kruger, E.J. Sullivan, J.H. Ryu, and E.P. Henske. The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. American Journal of Respiratory and Critical Care Medicine.

Carsillo, T., A. Aristotelis, and E.P. Henske. 2000. Mutations in the Tuberous Sclerosis Complex Gene TSC2 Are a Cause of Sporadic Pulmonary Lymphangioleiomyomatosis. Proc Natl Acad Sci U S A. 97:6085-6090.

Logginidou, H., X. Ao, I. Russo, and E.P. Henske. 2000. Frequent Estrogen and Progesterone Receptor Immunoreactivity in Renal Angiomyolipomas From Women With Pulmonary Lymphangioleiomyomatosis. Chest, Vol 117, p. 25-30.

Astrinidis, A., L. Khare, T. Carsillo, T. Smolarek, K.S. Au, H. Northrup, and E.P. Henske. 2000. Mutational Analysis of the Tuberous Sclerosis Gene TSC2 in Patients with Pulmonary Lymphangioleiomyomatosis. J of Med Genet, January 2000, Vol. 37, p 55-57

Matsui K., K. Takeda, Z.X. Yu, J. Valencia, W. Travis, J. Moss and V. Ferrans. 1999. Down regulation of Estrogen and Progesterone Receptors in the Abnormal Smooth Muscle Cells in Pulmonary Lymphangioleiomyomatosis Following Therapy. Am J Respir Crit Care Med, Vol 161, pp1002-1009.

Matsumoto, Y., K. Horiba, J. Usuki, S. Chu, V. Ferrans, and J. Moss. 1999. Markers of Cell Proliferation and Expression of Melanosomal Antigen in Lymphangioleiomyomatosis. Am J Respir Cell Mol Biol , 21:327-36.

Usuki, J., K. Horiba, S.C. Chu, J. Moss, and V.J. Ferrans. 1998. Immunohistochemical analysis of proteins of the Bcl-2 family in pulmonary lymphangioleiomyomatosis: association of Bcl-2 expression with hormone receptor status. Arch Pathol Lab Med Oct;122(10):895-902. (Arch Pathol Lab Med 1998 Oct;122(10):895-902.

Hayashi T., MV Fleming, WG Stetler-Stevenson, LA Liotta, J Moss, VJ Ferrans, WD Travis. Immunohistochemical study of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) in pulmonary lymphangioleiomyomatosis (LAM). Hum Pathol. 1997 Sep;28(9):1071-8.

Peyrol, S., D. Gindre, J.F. Cordier, R. Loire, and J.A. Grimaud. 1992. Characterization of the smooth muscle cell infiltrate and associated connective matrix of lymphangiomyomatosis. Immunohistochemical and ultrastructural study of two cases. J Pathol 168, no. 4:387-95.

Hoon V, Thung SN, Kaneko M, Unger PD: HMB-45 reactivity in renal angiomyolipoma and lymphangioleiomyomatosis. Arch Pathol Lab Med 1994, 118(7):732-734.

Cell Biology

Nellist M, Burgers PC, van den Ouweland AM, Halley DJ, Luider TM. Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. Biochem Biophys Res Commun. 2005 Aug 5;333(3):818-26.

Mak BC, Kenerson HL, Aicher LD, Barnes EA, Yeung RS. Aberrant b-Catenin Signaling in Tuberous Sclerosis.Am J Pathol 2005 Jul;167(1):107-16.

York B, Lou D, Panettieri Jr RA, Krymskaya VP, Vanaman TC, Noonan DJ. Cross-talk between tuberin, calmodulin, and estrogen signaling pathways. FASEB J. 2005 Apr 25.

Sarbassov D, Guertin D, Ali SM, Sabatini DM. Phosphorylation and Regulation of Akt/PKB by the Rictor-mTOR Complex. Science 2005 Feb. 18. V307: 1098-1101

Finlay GA, York B, Karas RH, Fanburg BL, Zhang H, Kwiatkowski DJ, Noonan DJ. Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of platelet-derived growth factor receptor-beta and ERK-1/2. J Biol Chem. 2004 May 28;279(22):23114-22.

Goncharova E, Goncharov D, Noonan D, Krymskaya VP. 2004. TSC2 Modulates Actin Cytoskeleton and Focal Adhesion through TSC1-Binding Domain and the Rac1 GTPase. The Journal of Cell Biology. V.167, No. 6 Dec. 20, 2004: 1171-1182.

Harrington LS, Findlay GM, Gray A, Tolkacheva T, Wigfield S, Rebholz H, Barnett J, Leslie NR, Cheng S, Shepherd PR, Gout I, Downes CP, and Lamb RF. The TSC1-2 tumor suppressor controls insulin-PI3K signaling via regulation of IRS proteins.

Karbowniczek M, Cash T, Cheung M, Robertson GP, Astrinidis A, Henske EP. Regulation of B-Raf kinase activity by tuberin and Rheb is mTOR independent. J Biol Chem. 2004 May 18.

van Slegtenhorst M, Carr E, Stoyanova R, Kruger WD, Henske EP. Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe. J Biol Chem. 2004 Mar 26;279(13):12706-13.

Walker CL, Hunter D, Everitt JI. Uterine leiomyoma in the Eker rat: a unique model for important diseases of women. Genes Chromosomes Cancer. 2003 Dec;38(4):349-56.

Flores-Delgado G, Anderson KD, Warburton D. Nongenomic estrogen action regulates tyrosine phosphatase activity and tuberinstability. Mol Cell Endocrinol. 2003 Jan 31;199(1-2):143-51.

Ryu JH, Doerr CH, Fisher SD, Olson EJ, Sahn SA. Chylothorax in lymphangioleiomyomatosis. Chest. 2003 Feb;123(2):623-7.

Astrinidis A, Senapedis W, Coleman TR, Henske EP. Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by CDK1/cyclin B. J Biol Chem. 2003 Dec 19;278(51):51372-9.

Yu J, Astrinidis A, Howard S, Henske EP. Estradiol and Tamoxifen Stimulate Lymphangiomyomatosis-Associated Angiomyolipoma Cell Growth and Activate Both Genomic and Non-Genomic Signaling Pathways. Am J Physiol Lung Cell Mol Physiol. 2003 Aug 15.

Kwiatkowski DJ. Rhebbing up mTOR: New Insights on TSC1 and TSC2, and the Pathogenesis of Tuberous Sclerosis. Cancer Biol Ther. 2003 Sep-Oct;2(5):471-6.

Zhang H, Cicchetti G, Onda H, Koon HB, Asrican K, Bajraszewski N, Vazquez F,Carpenter CL, Kwiatkowski DJ. Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR. J Clin Invest. 2003 Oct;112(8):1223-33.

El-Hashemite N, Walker V, Zhang H, Kwiatkowski DJ. Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res. 2003 Sep 1;63(17):5173-7.

Finlay GA, Hunter DS, Walker CL, Paulson KE, Fanburg BL. Regulation of PDGF production and ERK activation by estrogen is associated with TSC2 gene expression. Am J Physiol Cell Physiol. 2003 Aug;285(2):C409-18.

Yeung RS. Multiple roles of the tuberous sclerosis complex genes. Genes Chromosomes Cancer. 2003 Dec;38(4):368-75.

Mak BC, Takemaru K, Kenerson HL, Moon RT, Yeung RS. The tuberin-hamartin complex negatively regulates beta-catenin signaling activity. J Biol Chem. 2003 Feb 21;278(8):5947-51.

Gao X, Zhang Y, Arrazola P, Hino O, Kobayashi T, Yeung RS, Ru B, Pan D. 2002 TSC tumor suppressor proteings antagonize amino-acid TOR signaling. Nat Cell Biol. Sep; 4(9):699-704.

Dan HC, Sun M, Yang L, Feldman RI, Sui XM, Ou CC, Nellist M, Yeung RS, Halley DJ, Nicosia SV, Pledger WJ, Cheng JQ. 2002. Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. J Biol Chem. Sep 20; 277 (38): 35364-70.

Astrinidis A, Cash TP, Hunter DS, Walker CL, Chernoff J, Henske EP. 2002. Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration. Oncogene 2002 Dec 5;21(55):8470-6.

Goncharova, E.A., Goncharov, D.A., Eszterhas, A., Hunter, D.S., Glassberg, M., Yeung, R., Walker, C., Noonan, D., Kwiatkowski, D., Chou, M., Panetttieri, R., Kyrmskaya, V. 2002. Tuberin Regulates p70 S6 Kinase Activation and Ribosomal Protein S6 Phosphorylation. The Journal of Biological Chemistry. V 277, No. 34, pp. 30958-30967.

Flores-Delgado, G. 2002. Nongenomic estrogen action regulates tyrosine phosphatase activity and Tuberin stability. Journal: Molecular and Cellular Endocrinology. 2003: 199:143-51.

Hunter, DS, M. Klotzbucher, H. Kugoh, SL. Cai, J. Mullen, G. Manfioletti, U. Fuhrman, and C.L. Walker. 2002. Aberrant Expression of HMGA2 in Uterine Leiomyoma Associated with Loss of TSC2 Tumor Suppressor Gene Function. Cancer Research 62, 3766-3772.

Noonan DJ., D. Lou, N. Griffith, TC. Vanaman. 2002. A Calmodulin Binding Site in the Tuberous Sclerosis 2 Gene Product Is Essential for Regulation of Transcription Events and Is Altered by Mutations Linked to Tuberous Sclerosis and Lymphangioleiomyomatosis. Arch Biochem Biophys. Feb 1;398(1):132-140.

Lou D., N. Griffith, DJ. Noonan,. 2001. The Tuberous Sclerosis 2 Gene Product Can Localize to Nuclei in a Phosphorylation-Dependent Manner. Molecular Cell Biology Research Communications. V4, 374-380.

Valencia, J.C., K. Matsui, C. Bondy, J. Zhou, A. Rasmussen, K. Cullen, Z.X. Yu, J. Moss, and V.J. Ferrans. 2001. Distribution and mRNA expression of insulin-like growth factor system in pulmonary lymphangioleiomyomatosis. J Investig Med. 49:421-433.

Paquette, B., P.K. Fortier, J. Heroux, P.A. Thibodeau, R. Wagner, J. Liu, A. Cantin. 2000. Oestrogen metabolism in lymphangioleiomyomatosis: catechol-O-methyltransferase pathway is not involved. Thorax; 55:574-578

Henry, K., X. Yuan, N. Koszewaki, H. Onda, D. Kwiatkowski, and D. J. Noonan. 1998. Tuberous Sclerosis Gene 2 Product Modulates Transcription Mediated by Steroid Hormone Receptor Family Members. J of Biol Chem, Vol. 273, No. 32.

Smolarek, T., L. Wessner, F.X. McCormack, J. Mylet, A. Menon, and E.P. Henske. 1998. Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis. Am J Hum Genet.