R
Ronald G. Lafreniere
Researcher at Stanford University
Publications - 12
Citations - 3476
Ronald G. Lafreniere is an academic researcher from Stanford University. The author has contributed to research in topics: X chromosome & XIST. The author has an hindex of 11, co-authored 12 publications receiving 3299 citations. Previous affiliations of Ronald G. Lafreniere include Case Western Reserve University.
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Journal ArticleDOI
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
Carolyn J. Brown,Andrea Ballabio,James L. Rupert,Ronald G. Lafreniere,Markus Grompe,Rossana Tonlorenzi,Huntington F. Willard +6 more
TL;DR: This gene, called XIST (for Xi-specific transcripts), is a candidate for a gene either involved in or uniquely influenced by the process of X inactivation, and is described as an X-linked gene with a novel expression pattern.
Journal ArticleDOI
The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus.
Carolyn J. Brown,Brian Hendrich,Jim L. Rupert,Ronald G. Lafreniere,Yigong P. Xing,Jeanne B. Lawrence,Huntington F. Willard +6 more
TL;DR: Human XIST cDNAs containing at least eight exons and totaling 17 kb have been isolated and sequenced within the region on the X chromosome known to contain the X inactivation center, suggesting that XIST may function as a structural RNA within the nucleus.
Journal ArticleDOI
Localization of the X inactivation centre on the human X chromosome in Xq13
Carolyn J. Brown,Ronald G. Lafreniere,Vicki E. Powers,Gianfranco Sebastio,Andrea Ballabio,Anjana L. Pettigrew,David H. Ledbetter,Elaine R. Levy,Ian W. Craig,Huntington F. Willard +9 more
TL;DR: An analysis of several rearranged human X chromosomes is reported and a minimal region of overlap is defined that is consistent with models invoking a single XIC and provide a molecular foothold for cloning and analysing the XIC region.
Journal ArticleDOI
A novel transmembrane transporter encoded by the XPCT gene in Xq13.2
TL;DR: A novel gene isolated by positional cloning in Xq13.2 encodes a predicted 67 kDa protein containing twelve hydrophobic transmembrane domains, characteristic of a family of transporter proteins, designate this gene XPCT for X-linked PEST-containing transporter.
Journal ArticleDOI
Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A.
Robert A. Norum,Ronald G. Lafreniere,Lawrence W. O'Neal,Thomas F. Nikolai,John P. Delaney,James C. Sisson,Hagay Sobol,Gilbert M. Lenoir,Bruce A.J. Ponder,Huntington F. Willard,Charles E. Jackson +10 more
TL;DR: The syndrome of multiple endocrine neoplasia type 2B resembles that of MEN 2A in that both include medullary carcinoma of the thyroid, pheochromocytoma, and autosomal dominant inheritance, but is distinct in that MEN 2B patients have neuromas of the mucous membranes.