Brendan H Lee

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Brendan H Lee

Publications by authors named "Brendan H Lee"

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50Publications

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Gene therapy for repair and regeneration of bone and cartilage.

Curr Opin Pharmacol 2018 Jun 2;40:59-66. Epub 2018 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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June 2018

mTORC1 Signaling is a Critical Regulator of Postnatal Tendon Development.

Sci Rep 2017 Dec 7;7(1):17175. Epub 2017 Dec 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

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December 2017

Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis.

J Clin Invest 2017 Jun 19;127(7):2678-2688. Epub 2017 Jun 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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June 2017

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

Nat Commun 2017 Apr 11;8:15000. Epub 2017 Apr 11.

Program in Developmental Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

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April 2017

P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.

J Biol Chem 2017 03 23;292(9):3877-3887. Epub 2017 Jan 23.

From the Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington 98195.

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March 2017

Intra-iliac Artery Injection for Efficient and Selective Modeling of Microscopic Bone Metastasis.

J Vis Exp 2016 09 26(115). Epub 2016 Sep 26.

Lester and Sue Smith Breast Center, Baylor College of Medicine; Department of Molecular and Cellular Biology, Baylor College of Medicine; McNair Medical Institute, Baylor College of Medicine; Dan L. Duncan Cancer Center, Baylor College of Medicine;

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September 2016

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

Mol Genet Metab 2016 Mar 2;117(3):378-82. Epub 2015 Dec 2.

Molecular and Human Genetics Department, Baylor College of Medicine, United States. Electronic address:

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March 2016

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Hum Mol Genet 2015 Nov 10;24(22):6417-27. Epub 2015 Sep 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA,

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November 2015

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Mol Genet Metab 2014 Sep-Oct;113(1-2):131-5. Epub 2014 Jul 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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June 2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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June 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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May 2015

Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.

J Biol Chem 2015 Mar 2;290(13):8613-22. Epub 2015 Feb 2.

From the Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington 98195 and

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March 2015

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

J Clin Endocrinol Metab 2014 Nov 22;99(11):E2451-6. Epub 2014 Jul 22.

Department of Molecular and Human Genetics (A.R., D.L., R.G., P.C., B.L.), Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) (D.B., F.C., H.C., I.B.), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Human Genome Sequencing Center (J.T.L., R.G.), Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), Baylor College of Medicine, Houston, Texas 77030; Unidad de Metabolismo (S.K.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Unidad de Nefrología (J.M.L., G.V.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Howard Hughes Medical Institute (B.L.), Houston, Texas 77030.

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November 2014

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Hum Mol Genet 2014 Sep 20;23(R1):R1-8. Epub 2014 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Howard Hughes Medical Institute, Houston, TX 77030, USA

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September 2014

Notch activation as a driver of osteogenic sarcoma.

Cancer Cell 2014 Sep;26(3):390-401

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, R815, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, One Baylor Plaza, R815, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA. Electronic address:

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September 2014

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

Hum Mol Genet 2014 Aug 14;23(15):4035-42. Epub 2014 Mar 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA Howard Hughes Medical Institute, One Baylor Plaza, Houston, TX 77030, USA

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August 2014

Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.

N Engl J Med 2014 Aug;371(7):593-6

From the Human Genome Sequencing Center and the Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), and the Department of Molecular and Human Genetics (B.H.L)., Baylor College of Medicine; and the Howard Hughes Medical Institutes (B.H.L.) - both in Houston; and the Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal (P.M.C.).

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August 2014

Notch signaling in skeletal stem cells.

Calcif Tissue Int 2014 Jan 22;94(1):68-77. Epub 2013 Aug 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Rm R814, Houston, TX, 77030, USA.

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January 2014

Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.

PLoS Genet 2014 Jan 23;10(1):e1004121. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas, United States of America.

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January 2014

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Mol Genet Metab Rep 2014 ;1:213-219

Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal; Medical genetics service, Room 6727, Sainte-Justine Hospital, 3175, Côte-Sainte-Catherine, Montréal QC Canada H3T 1C5.

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January 2014

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Mol Genet Metab Rep 2014 ;1:176-183

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX, 77030-3411, USA ; Howard Hughes Medical Institute, Houston, TX, USA.

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January 2014

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

J Bone Miner Res 2013 Nov;28(11):2333-7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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November 2013

Early childhood presentation of Czech dysplasia.

Clin Dysmorphol 2013 Apr;22(2):76-80

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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April 2013

Proteoglycan 4 expression protects against the development of osteoarthritis.

Sci Transl Med 2013 Mar;5(176):176ra34

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS 227, Houston, TX 77030, USA.

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March 2013

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Hum Mutat 2012 Nov 12;33(11):1520-5. Epub 2012 Jul 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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November 2012

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Hum Mol Genet 2012 Nov 8;21(22):4904-9. Epub 2012 Aug 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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November 2012

Assessment of bone mineral status in children with Marfan syndrome.

Am J Med Genet A 2012 Sep 7;158A(9):2221-4. Epub 2012 Aug 7.

Department of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Houston, Texas 77030-3411, USA.

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September 2012

miRNA-34c regulates Notch signaling during bone development.

Hum Mol Genet 2012 Jul 12;21(13):2991-3000. Epub 2012 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine,One Baylor Plaza, Houston, TX 77030, USA.

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July 2012

Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?

Mol Genet Metab 2012 Jun 11;106(2):237-40. Epub 2012 Apr 11.

Department of Pediatrics (Division of Endocrinology and Metabolism), Baylor College of Medicine, Houston, TX, USA.

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June 2012

Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study.

Mol Genet Metab 2010 19;100 Suppl 1:S84-7. Epub 2010 Feb 19.

Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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July 2010

Heritability of plasma amino acid levels in different nutritional states.

Mol Genet Metab 2007 Feb 26;90(2):217-20. Epub 2006 Sep 26.

Center for Molecular and Human Genetics, Columbus Children's Research Institute, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA.

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February 2007