Eli Sprecher

Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation

Emily Mira Warshauer, Paul Maier, Göran Runfeldt, Ignacia Fuentes et autres

BACKGROUND: c.6527insC mutation is curiously prevalent among individuals with RDEB and is found worldwide in Europe and the Americas. Previous research has suggested the possibility of a Sephardic Jewish origin of the mutation; however, individuals with RDEB are not known to have …

us, fr, cl, es, ar, gb, co, pt, il (code pays fourni par la source)

P1-06-23: Changes in Gene Expression after One Dose of Trastuzumab (T) in HER2+ Breast Cancer Cell Lines Predict Novel Pathways of Response in HER2 Positive Early Stage Breast Cancer.

Eli Sprecher, Kimberly Lezon-Geyda, Sudipa Sarkar, V Bossuyt et autres

Abstract Introduction: Trastuzumab is a targeted therapy against the HER2 cell surface receptor and has greatly improved prognosis for HER2+ breast cancer patients. Despite decades of research, the mechanism of action of T remains unclear and mechanisms of resistance have not been …

us (code pays fourni par la source)

Abstract PD07-08: Integrated Genomic Analysis before and after Brief Exposure to Trastuzumab (T): The11q13 and 17q12 Amplicons Are Associated with Response to T+Chemotherapy in Early Stage HER2 Positive Breast Cancer

LN Harris, Z. Liu, Alexander L. Li, Eli Sprecher et autres

Abstract Background: The receptor tyrosine kinase HER2 is overexpressed in 18-20% of breast cancers and is the target of the highly effective therapy, trastuzumab. Coamplicons are frequent in HER2 amplified tumors, yet their role in response to T is not defined. To …

us (code pays fourni par la source)

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria

Daniella Magen, Eli Sprecher, Israel Zelikovic, Karl Skorecki

il (code pays fourni par la source)