MARTHA M SKINNER

Summary

Affiliation: Boston University
Country: USA

Publications

  1. ncbi request reprint High-dose melphalan and autologous stem-cell transplantation in patients with AL amyloidosis: an 8-year study
    Martha Skinner
    Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Ann Intern Med 140:85-93. 2004
  2. ncbi request reprint High-dose intravenous melphalan with autologous stem cell transplantation in AL amyloidosis-associated end-stage renal disease
    Liam F Casserly
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Kidney Int 63:1051-7. 2003
  3. doi request reprint Short and long-term outcome of treatment with high-dose melphalan and stem cell transplantation for multiple myeloma-associated AL amyloidosis
    Saulius Girnius
    Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, MA 02118, USA
    Ann Hematol 89:579-84. 2010
  4. doi request reprint The critical role of the constant region in thermal stability and aggregation of amyloidogenic immunoglobulin light chain
    Elena S Klimtchuk
    Gerry Amyloid Research Laboratory, Amyloid Treatment and Research Center, Department of Medicine, Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts 02118, United States
    Biochemistry 49:9848-57. 2010
  5. ncbi request reprint Diaphragm paralysis in primary systemic amyloidosis
    John L Berk
    The Pulmonary Center, Boston University School of Medicine, MA 02118, USA
    Amyloid 12:193-6. 2005
  6. pmc Successful treatment of AL amyloidosis with high-dose melphalan and autologous stem cell transplantation in patients over age 65
    David C Seldin
    Section of Hematology Oncology, Boston University Medical Center, 650 Albany St, Boston, MA 02118, USA
    Blood 108:3945-7. 2006
  7. ncbi request reprint Association of acquired von Willebrand syndrome with AL amyloidosis
    Cynthia A Kos
    Department of Medicine, Boston University Medical Center, Boston, Massachusetts, USA
    Am J Hematol 82:363-7. 2007
  8. ncbi request reprint Eprodisate for the treatment of renal disease in AA amyloidosis
    Laura M Dember
    Boston University School of Medicine, Boston, MA 02118, USA
    N Engl J Med 356:2349-60. 2007
  9. ncbi request reprint Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival
    Tatiana Prokaeva
    Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
    Arthritis Rheum 56:3858-68. 2007
  10. pmc Heterogeneity in primary structure, post-translational modifications, and germline gene usage of nine full-length amyloidogenic kappa1 immunoglobulin light chains
    Lawreen H Connors
    Alan and Sandra Gerry Amyloid Research Laboratory in the Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Biochemistry 46:14259-71. 2007

Research Grants

  1. XIth International Symposium on Amyloidosis
    Martha Skinner; Fiscal Year: 2006

Collaborators

Detail Information

Publications38

  1. ncbi request reprint High-dose melphalan and autologous stem-cell transplantation in patients with AL amyloidosis: an 8-year study
    Martha Skinner
    Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Ann Intern Med 140:85-93. 2004
    ..AL amyloidosis is a fatal disease resulting from tissue deposition of amyloid fibrils derived from monoclonal immunoglobulin light chains. Treatment with oral chemotherapy is minimally effective...
  2. ncbi request reprint High-dose intravenous melphalan with autologous stem cell transplantation in AL amyloidosis-associated end-stage renal disease
    Liam F Casserly
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Kidney Int 63:1051-7. 2003
    ..The efficacy and tolerability of such treatment for patients with AL amyloidosis-associated ESRD are unknown...
  3. doi request reprint Short and long-term outcome of treatment with high-dose melphalan and stem cell transplantation for multiple myeloma-associated AL amyloidosis
    Saulius Girnius
    Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, MA 02118, USA
    Ann Hematol 89:579-84. 2010
    ..Hematologic relapses occurred in 60% of patients at a median of 1 year after HDM/SCT. In conclusion, HDM/SCT can prolong overall survival in patients with MM/AL who are eligible to receive it...
  4. doi request reprint The critical role of the constant region in thermal stability and aggregation of amyloidogenic immunoglobulin light chain
    Elena S Klimtchuk
    Gerry Amyloid Research Laboratory, Amyloid Treatment and Research Center, Department of Medicine, Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts 02118, United States
    Biochemistry 49:9848-57. 2010
    ..The kinetic barrier for this aggregation is regulated by the stability of the V(L) region. This represents a paradigm shift in AL fibrillogenesis and suggests C(L) region as a potential therapeutic target...
  5. ncbi request reprint Diaphragm paralysis in primary systemic amyloidosis
    John L Berk
    The Pulmonary Center, Boston University School of Medicine, MA 02118, USA
    Amyloid 12:193-6. 2005
    ..Nocturnal non-invasive ventilation lowered arterial carbon dioxide levels and improved daytime dyspnea. This is the first case associating AL amyloid-induced neuropathy with diaphragm dysfunction...
  6. pmc Successful treatment of AL amyloidosis with high-dose melphalan and autologous stem cell transplantation in patients over age 65
    David C Seldin
    Section of Hematology Oncology, Boston University Medical Center, 650 Albany St, Boston, MA 02118, USA
    Blood 108:3945-7. 2006
    ....
  7. ncbi request reprint Association of acquired von Willebrand syndrome with AL amyloidosis
    Cynthia A Kos
    Department of Medicine, Boston University Medical Center, Boston, Massachusetts, USA
    Am J Hematol 82:363-7. 2007
    ..AVWS should be considered in AL amyloidosis patients with hemorrhagic diatheses and normal clotting factor levels...
  8. ncbi request reprint Eprodisate for the treatment of renal disease in AA amyloidosis
    Laura M Dember
    Boston University School of Medicine, Boston, MA 02118, USA
    N Engl J Med 356:2349-60. 2007
    ....
  9. ncbi request reprint Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival
    Tatiana Prokaeva
    Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
    Arthritis Rheum 56:3858-68. 2007
    ....
  10. pmc Heterogeneity in primary structure, post-translational modifications, and germline gene usage of nine full-length amyloidogenic kappa1 immunoglobulin light chains
    Lawreen H Connors
    Alan and Sandra Gerry Amyloid Research Laboratory in the Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Biochemistry 46:14259-71. 2007
    ..This study demonstrated the extensive heterogeneity in primary structure, post-translational modifications, and germline gene usage that occurred in nine amyloidogenic kappa1 LC proteins...
  11. pmc Diagnostic and prognostic utility of cardiovascular magnetic resonance imaging in light-chain cardiac amyloidosis
    Frederick L Ruberg
    Department of Medicine, Boston University School of Medicine, Massachusetts, USA
    Am J Cardiol 103:544-9. 2009
    ..LGE is strongly correlated with heart failure severity as assessed by BNP...
  12. doi request reprint Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis
    Lawreen H Connors
    Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, MA 02118, USA
    Am Heart J 158:607-14. 2009
    ..9%. This retrospective study describes TTR V122I-associated cardiac amyloid disease (ATTR) in a major amyloid referral clinic population...
  13. pmc Cellular response of cardiac fibroblasts to amyloidogenic light chains
    Vickery Trinkaus-Randall
    Department of Biochemistry, Boston University School of Medicine, L904, 80 E Concord Street, Boston, MA 02118, USA
    Am J Pathol 166:197-208. 2005
    ..These studies indicate that internalization of the light chains mediates the expression and localization of heparan sulfate proteoglycans...
  14. ncbi request reprint A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy
    Lawreen Heller Connors
    Department of Biochemistry, Boston University School of Medicine, Amyloid Treatment and Research Program, Boston University School of Medicine, Boston, MA, USA
    Amyloid 11:61-6. 2004
    ..This result was confirmed by restriction fragment length polymorphism (RFLP) testing. The presence of the variant protein, TTR Asp18Glu, in serum from the proband was confirmed by mass spectrometric analysis...
  15. ncbi request reprint Incidence and outcome of acute renal failure complicating autologous stem cell transplantation for AL amyloidosis
    Amit Fadia
    The Renal Section, Stem Cell Transplant Program of the Hematology Oncology Section, and Amyloid Treatment and Research Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
    Kidney Int 63:1868-73. 2003
    ..The incidence and outcome of ARF as a complication of such treatment is not known...
  16. ncbi request reprint Tolerability and efficacy of thalidomide for the treatment of patients with light chain-associated (AL) amyloidosis
    David C Seldin
    Boston University Medical Center, Boston Medical Center, MA, USA
    Clin Lymphoma 3:241-6. 2003
    ..No complete hematologic responses were seen, but 25% of patients had a significant reduction in Bence-Jones proteinuria. Thus, while thalidomide has activity in AL amyloidosis, it also has significant toxicity in this patient population...
  17. ncbi request reprint Improvement in quality of life of patients with AL amyloidosis treated with high-dose melphalan and autologous stem cell transplantation
    David C Seldin
    Amyloid Treatment and Research Program, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Blood 104:1888-93. 2004
    ..Thus, treatment of AL amyloidosis patients with HDM/SCT produces measurable and sustained improvements in quality of life, particularly in those patients who achieve hematologic CR...
  18. ncbi request reprint Low-dose continuous oral melphalan for the treatment of primary systemic (AL) amyloidosis
    Vaishali Sanchorawala
    Department of Medicine, Section of Hematology Oncology, Boston Medical Center, Boston University School of Medicine, 88 East Newton Street, Boston, MA 02118, USA
    Br J Haematol 117:886-9. 2002
    ..This regimen appeared to be effective in inducing haematological responses in patients who received total doses of melphalan > 300 mg...
  19. pmc Spontaneous rupture of the liver in a patient with systemic AL amyloidosis undergoing treatment with high-dose melphalan and autologous stem cell transplantation: a case report with literature review
    Martin Tam
    Graduate Medical Sciences Division, Boston University School of Medicine, Boston, Massachusetts, USA
    Amyloid 16:103-7. 2009
    ..A literature review of spontaneous liver rupture in patients with amyloidosis is presented...
  20. pmc Cardiac transplantation followed by dose-intensive melphalan and autologous stem-cell transplantation for light chain amyloidosis and heart failure
    Bimalangshu R Dey
    Massachusetts General Hospital, Boston, MA, USA
    Transplantation 90:905-11. 2010
    ..Autologous stem-cell transplantation (ASCT) has become a common therapy for AL amyloidosis, but there is an exceedingly high treatment-related mortality in patients with heart failure...
  21. ncbi request reprint Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis
    Amareth Lim
    Department of Biochemistry, Boston University School of Medicine, Massachusetts 02118, USA
    Anal Chem 74:741-51. 2002
    ..The detection of two nonpathologic variants (Thr119Met and Gly6Ser) and four pathologic variants (Phe64Leu, Asp38Ala, Phe44Ser, and previously unreported Trp41Leu) are described as illustrations of this approach...
  22. pmc Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis
    Amareth Lim
    Mass Spectrometry Resource, Boston University School of Medicine, 715 Albany Street, Boston, MA 02118, USA
    Protein Sci 12:1775-85. 2003
    ..These adducts may play a role in the TTR fibrillogenesis...
  23. ncbi request reprint A new transthyretin variant (Glu61Gly) associated with cardiomyopathy
    Michael Rosenzweig
    Amyloid Treatment and Research Program, Boston University School of Medicine, MA 02118, USA
    Amyloid 14:65-71. 2007
    ..The observed mass results for the wild-type and variant proteins were consistent with the predicted values calculated from the genetic analysis data...
  24. pmc Long-term outcome of patients with AL amyloidosis treated with high-dose melphalan and stem-cell transplantation
    Vaishali Sanchorawala
    Stem Cell Transplantation Program of the Section of Hematology Oncology, Boston University School of Medicine, Boston, MA 02118, USA
    Blood 110:3561-3. 2007
    ..001). In conclusion, HDM/SCT leads to durable remissions and prolonged survival, particularly for those patients who achieve a hematologic CR...
  25. pmc Role of endocytic inhibitory drugs on internalization of amyloidogenic light chains by cardiac fibroblasts
    Grace Fortes Monis
    Department of Pathology, Gerry Amyloid Research Laboratory, Boston University School of Medicine, 80 E Concord St L904, Boston, MA 02118, USA
    Am J Pathol 169:1939-52. 2006
    ..These results indicate that the cell internalizes light chain by a fluid phase endocytosis, which is then modified and ultimately compromises the cell...
  26. pmc Hepatic response after high-dose melphalan and stem cell transplantation in patients with AL amyloidosis associated liver disease
    Saulius Girnius
    Department of Medicine, Boston University School of Medicine, Boston University School of Public Health, Boston, MA, USA
    Haematologica 94:1029-32. 2009
    ..In conclusion, hepatic disease improves in almost 2/3 patients treated with high-dose intravenous melphalan and autologous stem cell transplantation who have a complete or partial hematologic response to treatment...
  27. ncbi request reprint Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis
    Belinda Ng
    Amyloidosis Treatment and Research Program, Sections of Cardiology, Boston University School of Medicine, Boston, MA, USA
    Arch Intern Med 165:1425-9. 2005
    ....
  28. pmc Thermodynamic stability of a kappaI immunoglobulin light chain: relevance to multiple myeloma
    Connie M Chung
    Department of Physiology and Biophysics, Boston University School of Medicine, Massachusetts, 02118, USA
    Biophys J 88:4232-42. 2005
    ..The stability of MM-kappaI was reduced and protein unfolding was irreversible at pH 4.8, thus suggesting that different pathways are utilized in thermal and chemical unfolding...
  29. doi request reprint Light-chain amyloidosis with echocardiographic features of hypertrophic cardiomyopathy
    Danya L Dinwoodey
    Section of Cardiology, Department of Medicine, Boston Medical Center, Boston, MA, USA
    Am J Cardiol 101:674-6. 2008
    ..In conclusion, awareness of this overlap in echocardiographic presentation may permit more accurate diagnosis, particularly at early stages of amyloid disease, when more treatment options exist...
  30. ncbi request reprint Human amyloidogenic light chains directly impair cardiomyocyte function through an increase in cellular oxidant stress
    Daniel A Brenner
    Whitaker Cardiovascular Institute and Amyloid Treatment and Research Program, Evans Department of Medicine, Boston University School of Medicine, Boston, Mass 02118, USA
    Circ Res 94:1008-10. 2004
    ..Antioxidant therapies or treatment strategies aimed at eliminating circulating LC proteins may therefore be beneficial in the treatment of this fatal disease...
  31. pmc Role of glycosaminoglycan sulfation in the formation of immunoglobulin light chain amyloid oligomers and fibrils
    Ruiyi Ren
    Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    J Biol Chem 285:37672-82. 2010
    ..These findings highlight the importance of the variable and constant LC regions in GAG interaction and suggest potential therapeutic targets for treatment...
  32. ncbi request reprint Cardiac amyloidosis: shifting our impressions to hopeful
    Douglas B Sawyer
    Amyloid Treatment and Research Program, Boston University School of Medicine, 715 Albany Street, K5, Boston, MA 02118, USA
    Curr Heart Fail Rep 3:64-71. 2006
    ..The identification and appropriate referral of patients in whom this condition is suspected will help to improve the likelihood of successful therapy and long-term survival...
  33. ncbi request reprint Is elevated plasma B-natriuretic peptide in amyloidosis simply a function of the presence of heart failure?
    Melanie Nordlinger
    Amyloidosis Treatment and Research Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
    Am J Cardiol 96:982-4. 2005
    ....
  34. ncbi request reprint Beta 2 microglobulin serum levels and prediction of survival in AL amyloidosis
    Cristiano A F Zerbini
    Thorndike Memorial Laboratory, Division of Medicine, Boston City Hospital, Arthritis Center, Boston University School of Medicine, Boston, Massachusetts, USA
    Amyloid 9:242-6. 2002
    ..1 months for beta 2M < or = 4 mg/ml vs 8.0 months for beta 2M > 4 mg/ml, p = 0.044). Thus a beta 2M level less than 4 mg/ml indicated a longer time of survival...
  35. ncbi request reprint Quantitative serum free light chain assay in the diagnostic evaluation of AL amyloidosis
    Harun Akar
    Amyloid Treatment and Research Program at Boston Medical Center, Boston University School of Medicine, Boston, MA, 02118, USA
    Amyloid 12:210-5. 2005
    ..After a histologic tissue diagnosis of amyloidosis, determining the type as AL amyloidosis relies on a panel of hematologic tests to determine light chain clonality and the exclusion other forms of amyloidosis...
  36. pmc Amyloidogenic and associated proteins in systemic amyloidosis proteome of adipose tissue
    Francesca Lavatelli
    Amyloid Treatment and Research Program, Boston, Massachusetts, USA
    Mol Cell Proteomics 7:1570-83. 2008
    ....
  37. ncbi request reprint Endothelial dysfunction precedes C-fiber abnormalities in primary (AL) amyloidosis
    Martin Berghoff
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
    Ann Neurol 53:725-30. 2003
    ..At this stage, C-fiber and smooth muscle function are still preserved. These data suggest that endothelial abnormalities precede and may contribute to the pathogenesis of the neuropathy associated with AL amyloidosis...
  38. ncbi request reprint Bone marrow core biopsy specimens in AL (primary) amyloidosis. A morphologic and immunohistochemical study of 100 cases
    Niall Swan
    Department of Pathology and Laboratory Medicine, Amyloid Treatment and Research Program, Boston University School of Medicine, 774 Albany St, Boston, MA 02118, USA
    Am J Clin Pathol 120:610-6. 2003
    ..04). Through the careful analysis of standard histochemical and immunohistochemical stains, bone marrow core biopsy provides essential diagnostic information in cases of AL amyloidosis...

Research Grants1

  1. XIth International Symposium on Amyloidosis
    Martha Skinner; Fiscal Year: 2006
    ..The Symposium is of great value because it is attended by both scientists and clinicians and it is the major meeting for inclusion of clinical research on amyloid diseases. ..