M. Leyne

发表

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

M. Hims, J. Gusella, C. Lázaro, 2007, Journal of Molecular Medicine.

Mutations in DCHS1 Cause Mitral Valve Prolapse

Francesca N. Delling, X. Estivill, R. Levine, 2015, Nature.

Kinetin in Familial Dysautonomia Carriers: Implications for a New Therapeutic Strategy Targeting mRNA Splicing

L. Rolnitzky, M. Leyne, J. Mull, 2009, Pediatric Research.

Mutations in DCHS1 Cause Mitral Valve Prolapse

Francesca N. Delling, Broome, Toomer, 2015, Nature.

Primary cilia defects causing mitral valve prolapse

Francesca N. Delling, Ryan L. Collins, Willian A. da Silveira, 2019, Science Translational Medicine.

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene.

C. Robbins, I. Makałowska, M. Leyne, 1999, Gene.

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Marc L. Mendillo, J. Gusella, X. Breakefield, 1999, American journal of human genetics.

Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP

M. Hims, M. Leyne, J. Mull, 2008, Molecular and Cellular Biology.

Identification of the first non‐Jewish mutation in familial Dysautonomia

J. Gusella, M. Leyne, J. Mull, 2003, American journal of medical genetics. Part A.

Cloning, mapping, and expression of a novel brain-specific transcript in the Familial Dysautonomia candidate region on Chromosome 9q31

J. Gusella, C. Robbins, I. Makałowska, 2000, Mammalian Genome.

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

C Maayan, J. Gusella, C. Robbins, 2001, American journal of human genetics.

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

M. Leyne, J. Mull, S. Slaugenhaupt, 2011, Pediatric Research.

IKBKAP mRNA in Peripheral Blood Leukocytes: A Molecular Marker of Gene Expression and Splicing in Familial Dysautonomia

L. Rolnitzky, M. Leyne, J. Mull, 2008, Pediatric Research.

Cloning, characterization, and genomic structure of the mouse Ikbkap gene.

J. Gusella, M. Leyne, J. Mull, 2001, DNA and cell biology.

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

J. Gusella, Weining Lu, D. Zagzag, 2003, American journal of human genetics.

Molecular cloning and developmental expression of a small ribonuclear protein in the mouse testis

M. Leyne, R. Oko, M. El‐Alfy, 1997, Molecular reproduction and development.

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

M. Hims, J. Gusella, M. Leyne, 2007, Genomics.

Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.

J. Gusella, C. Robbins, I. Makałowska, 1999, Genomics.

New Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 13: Clinical Insights From Genetic Studies

J. Marshall, R. Levine, J. Hung, 2005, Circulation.

A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4.

J. Marshall, R. Levine, M. Leyne, 2003, American journal of human genetics.

Specific correction of a splice defect in brain by nutritional supplementation.

M. Hims, M. Leyne, J. Mull, 2011, Human molecular genetics.

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

M. Hims, J. Gusella, M. Leyne, 2003, Human molecular genetics.

Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

M. Brownstein, M. Leyne, S. Gill, 2003, Brain Research.