T. Bertin

发表

Osteosclerosis owing to Notch gain of function is solely Rbpj‐dependent

B. Dawson, Jianning Tao, Brendan H. Lee, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Differential Effects of Collagen Prolyl 3-Hydroxylation on Skeletal Tissues

B. Dawson, O. Lichtarge, Brendan H. Lee, 2014, PLoS genetics.

Erythrocyte phosphoglucomutase: A family study of a PGM1 deficient allele

R. Ferrell, T. Bertin, L. Aguilar, 2004, Human Genetics.

Excessive TGFβ signaling is a common mechanism in Osteogenesis Imperfecta

B. Dawson, C. Ambrose, Y. Ishikawa, 2014, Nature Medicine.

Proteoglycan 4 Expression Protects Against the Development of Osteoarthritis

B. Dawson, J. Yustein, Brendan H. Lee, 2013, Science Translational Medicine.

Differential type I interferon-dependent transgene silencing of helper-dependent adenoviral vs. adeno-associated viral vectors in vivo.

Brendan H. Lee, G. Rogers, R. Herzog, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

NOD2 signaling contributes to the innate immune response against helper-dependent adenovirus vectors independently of MyD88 in vivo.

J. Rodgers, Brendan H. Lee, V. Cerullo, 2011, Human gene therapy.

Combinatorial treatment with oncolytic adenovirus and helper-dependent adenovirus augments adenoviral cancer gene therapy

C. Rooney, Brendan H. Lee, A. Hemminki, 2014, Molecular therapy oncolytics.

Transcriptional Repression of the Dspp Gene Leads to Dentinogenesis Imperfecta Phenotype in Col1a1-Trps1 Transgenic Mice

B. Dawson, Brendan H. Lee, R. D'Souza, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.

C. Ambrose, Brendan H. Lee, X. Bi, 2014, Human molecular genetics.

Losartan increases bone mass and accelerates chondrocyte hypertrophy in developing skeleton.

B. Dawson, Brendan H. Lee, Yuqing Chen, 2015, Molecular genetics and metabolism.

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

R. Gibbs, Philippe M. Campeau, James T. Lu, 2017, The Journal of clinical investigation.

Connective tissue alterations in Fkbp10-/- mice.

Brendan H. Lee, D. Eyre, Yuqing Chen, 2014, Human molecular genetics.

Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap–/– Mice, a Model of Recessive Osteogenesis Imperfecta

B. Dawson, Brendan H. Lee, Yuqing Chen, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-β in the bone microenvironment

C. Ambrose, Brendan H. Lee, Yuqing Chen, 2013, Proceedings of the National Academy of Sciences.

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.

J. Marini, L. Burrage, Brendan H. Lee, 2020, JCI insight.

A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation

B. Dawson, Brendan H. Lee, D. Eyre, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI

B. Dawson, R. Gibbs, F. Glorieux, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

John J. Mitchell, A. Green, P. Byers, 2008, Human mutation.

Notch gain of function inhibits chondrocyte differentiation via Rbpj-dependent suppression of Sox9

Jianning Tao, Brendan H. Lee, Yuqing Chen, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad.

N. Brunetti‐Pierri, D. Palmer, P. Ng, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Connective tissue alterations in Fkbp10 2 / 2 mice

Brendan H. Lee, D. Eyre, Yuqing Chen, 2014 .

E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta.

A. Beaudet, D. Rifkin, B. Keller, 2010, The Journal of clinical investigation.

MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus.

N. Brunetti‐Pierri, Brendan H. Lee, V. Cerullo, 2010, Human gene therapy.

The Multinational Andean Genetic and Health Program. IX. Gene frequencies and rare variants of 20 serum proteins and erythrocyte enzymes in the Aymara of Chile.

F. Rothhammer, R. Ferrell, W. Schull, 1980, American journal of human genetics.

Variability of expression in tuberous sclerosis.

R. Lewis, J. Wheless, H. Northrup, 1993, Journal of medical genetics.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

P. Patel, M. Justice, D. Tibboel, 2013, Human molecular genetics.

Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice.

B. Dawson, Brendan H. Lee, S. Crawford, 2016, Molecular genetics and metabolism.

Capsid-modified adenoviral vectors for improved muscle-directed gene therapy.

Brendan H. Lee, A. Hemminki, K. Guse, 2012, Human gene therapy.

Large-scale production of high-quality helper-dependent adenoviral vectors using adherent cells in cell factories.

Brendan H. Lee, R. Cela, Masataka Suzuki, 2010, Human gene therapy.

Notch activation as a driver of osteogenic sarcoma.

B. Dawson, Jianning Tao, L. Donehower, 2014, Cancer cell.

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

B. Dawson, C. Shaw, A. Bertuch, 2005, Human molecular genetics.

Whole‐Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI

Alyssa A. Tran, R. Gibbs, S. Jhangiani, 2018, JBMR plus.

Dimorphic effects of Notch signaling in bone homeostasis

Brendan H. Lee, Guang Zhou, Yuqing Chen, 2008, Nature Medicine.

Brachy–syndactyly caused by loss of Sfrp2 function

Chad A Shaw, Bernhard Zabel, C. Shaw, 2008, Journal of cellular physiology.

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Ping Zhang, Hong Jiang, Sridevi Devaraj, 2018, American journal of human genetics.

Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate

J. Mulliken, S. Blanton, J. Hecht, 2004, American journal of medical genetics. Part A.

Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors.

J. Rodgers, N. Brunetti‐Pierri, Brendan H. Lee, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

miRNA-34c regulates Notch signaling during bone development.

B. Dawson, Jianning Tao, Philippe M. Campeau, 2012, Human molecular genetics.

Notch signaling contributes to the pathogenesis of human osteosarcomas.

L. Donehower, Brendan H. Lee, Lisa L. Wang, 2009, Human molecular genetics.

SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors.

P. Mithbaokar, N. Brunetti‐Pierri, D. Palmer, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.

B. Dawson, N. Bryan, Philippe M. Campeau, 2014, American journal of physiology. Gastrointestinal and liver physiology.

Deficiency of FRAS 1-related extracellular matrix 1 ( FREM 1 ) causes congenital diaphragmatic hernia in humans and mice

P. Patel, M. Justice, D. Tibboel, 2013 .

Origins of u.s. Hispanics: Implications for Diabetes

D. Hewett‐Emmett, W. Schull, C. Hanis, 1991, Diabetes Care.

Interaction of TGFβ and BMP Signaling Pathways during Chondrogenesis

B. Keller, Brendan H. Lee, Yuqing Chen, 2011, PloS one.

MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts

Rui Chen, Philippe M Campeau, B. Dawson, 2017, Nature Communications.

CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

F. Glorieux, P. Byers, Brendan H. Lee, 2006, Cell.

Requirement of argininosuccinate lyase for systemic nitric oxide production

Marshall Summar, William E O'Brien, Philippe M Campeau, 2011, Nature Medicine.

Nonsyndromic cleft lip and palate: Four chromosomal regions of interest

J. Mulliken, S. Blanton, J. Hecht, 2004, American journal of medical genetics. Part A.

Ascorbate Synthesis Pathway

P. Vogel, K. Bohren, K. Gabbay, 2010, The Journal of Biological Chemistry.

Variability ofexpression intuberous sclerosis

T. Bertin, Richard AlanLewis, 1993 .

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)

L. Shaffer, C. Epstein, V. Sutton, 2003, Human Genetics.

An electrophoretic study of glycolytic enzymes in a human population living at high altitude: the Aymara of northern Chile and western Bolivia

R. Ferrell, W. Schull, T. Bertin, 1981, Human Genetics.

The Aymara of Western Bolivia. IV. Gene frequencies for eight blood groups and 19 protein and erythrocyte enzyme systems.

R. Ferrell, W. Schull, T. Bertin, 1978, American journal of human genetics.

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, neurogenetics.