H
Holly Root
Researcher at National Institutes of Health
Publications - 4
Citations - 7673
Holly Root is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Chromosome 4 & Bacterial artificial chromosome. The author has an hindex of 4, co-authored 4 publications receiving 7117 citations.
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Journal ArticleDOI
Mutation in the α-synuclein gene identified in families with Parkinson's disease
Mihael H. Polymeropoulos,Christian Lavedan,Elisabeth Leroy,Susan E. Ide,Anindya Dehejia,Amalia Dutra,Brian L. Pike,Holly Root,Jeffrey Rubenstein,Rebecca Boyer,Edward S. Stenroos,Settara C. Chandrasekharappa,Aglaia Athanassiadou,Theodore Papapetropoulos,William G. Johnson,Alice Lazzarini,Roger C. Duvoisin,Giuseppe Di Iorio,Lawrence I. Golbe,Robert L. Nussbaum +19 more
TL;DR: A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.
Journal Article
A Novel Putative Low-Affinity Insulin-like Growth Factor-binding Protein, LIBC (Lost in Inflammatory Breast Cancer), and RhoC GTPase Correlate with the Inflammatory Breast Cancer Phenotype
Kenneth L. van Golen,Seena Davies,Zhi Fen Wu,Yun Fang Wang,Corazon D. Bucana,Holly Root,Settara C. Chandrasekharappa,Myla Strawderman,Stephen P. Ethier,Sofia D. Merajver +9 more
TL;DR: This study suggests two new molecular markers specific for inflammatory breast cancer, RhoC GTPase and LIBC, which are highly correlated with the inflammatory phenotype when a panel of archival inflammatory breast cancers was compared with noninflammatory stage III breast cancers by in situ hybridization.
Journal ArticleDOI
Contig Map of the Parkinson's Disease Region on 4q21-q23
Christian Lavedan,Anindya Dehejia,Brian L. Pike,Amalia Dutra,Elisabeth Leroy,Susan E. Ide,Holly Root,Jeffrey Rubenstein,Rebecca Boyer,Settara C. Chandrasekharappa,Izabela Makalowska,Robert L. Nussbaum,Mihael H. Polymeropoulos +12 more
TL;DR: This contig allowed us to precisely determine the location of 18 transcripts within the D4S2460-D4S2986 interval, including the alpha-synuclein gene found to be mutated in some families with Parkinson's disease.
Journal ArticleDOI
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs.
Wafaa Eyaid,Mark V. Clough,Holly Root,Kathleen M. Scott,Mary Kay McCormick,Xue Zhang,Nikolai A. Lisitsyn,William G. Kearns,Clair A. Francomano,Julia E. Richards,Iain McIntosh +10 more
TL;DR: )Center for Medical Genetics, Johns Hopkins University, 600 NorthWolfe Street, Blalock 1012G, Baltimore, MD 21287-4922, USAe-mail: imcintos@welchlink.jhu.edu