Notch Signaling in Skeletal Development, Homeostasis and Pathogenesis

por Zieba, Jennifer T., Chen, Yi-Ting, Lee, Brendan H., Bae, Yangjin
Publicado 2020

Bmi1 Suppresses Adipogenesis in the Hematopoietic Stem Cell Niche

por Hu, Tianyuan, Kitano, Ayumi, Luu, Victor, Dawson, Brian, Hoegenauer, Kevin A., Lee, Brendan H., Nakada, Daisuke
Publicado 2019

Double-Spin Leukocyte-Rich Platelet-Rich Plasma Is Predominantly Lymphocyte Rich With Notable Concentrations of Other White Blood Cell Subtypes

por Marathe, Anuj, Patel, Shiv J., Song, Bo, Sliepka, Joseph M., Shybut, Theodore S., Lee, Brendan H., Jayaram, Prathap
Publicado 2021

Assessment of Bone Mineral Status in Children With Marfan Syndrome

por Grover, Monica, Brunetti-Pierri, Nicola, Belmont, John, Phan, Kelly, Tran, Alyssa, Shypailo, Roman J, Ellis, Kenneth J, Lee, Brendan H
Publicado 2012

miRNA‐34c Suppresses Osteosarcoma Progression In Vivo by Targeting Notch and E2F

por Bae, Yangjin, Zeng, Huan‐Chang, Chen, Yi‐Ting, Ketkar, Shamika, Munivez, Elda, Yu, Zhiyin, Gannon, Francis H., Lee, Brendan H.
Publicado 2022

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

por Murali, Chaya, Lu, James T., Jain, Mahim, Liu, David S., Lachman, Ralph, Gibbs, Richard A., Lee, Brendan H., Cohn, Daniel, Campeau, Philippe M.
Publicado 2014

mTORC1 Signaling is a Critical Regulator of Postnatal Tendon Development

por Lim, Joohyun, Munivez, Elda, Jiang, Ming-Ming, Song, I-Wen, Gannon, Francis, Keene, Douglas R., Schweitzer, Ronen, Lee, Brendan H., Joeng, Kyu Sang
Publicado 2017

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

por Zeng, Huan-Chang, Bae, Yangjin, Dawson, Brian C., Chen, Yuqing, Bertin, Terry, Munivez, Elda, Campeau, Philippe M., Tao, Jianning, Chen, Rui, Lee, Brendan H.
Publicado 2017

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

por Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M
Publicado 2016

Lysinuric protein intolerance presenting with multiple fractures

por Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee, Brendan H.
Publicado 2014

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

por Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Brendan H.
Publicado 2017

4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta

por Duran, Ivan, Zieba, Jennifer, Csukasi, Fabiana, Martin, Jorge H., Wachtell, Davis, Barad, Maya, Dawson, Brian, Fafilek, Bohumil, Jacobsen, Christina M., Ambrose, Catherine G., Cohn, Daniel H., Krejci, Pavel, Lee, Brendan H., Krakow, Deborah
Publicado 2022

Untargeted Metabolomic Profiling Reveals Multiple Pathway Perturbations and New Clinical Biomarkers in Urea Cycle Disorders

por Burrage, Lindsay C., Thistlethwaite, Lillian, Stroup, Bridget M., Sun, Qin, Miller, Marcus J., Nagamani, Sandesh CS, Craigen, William, Scaglia, Fernando, Sutton, V. Reid, Graham, Brett, Kennedy, Adam D., Milosavljevic, Aleksandar, Lee, Brendan H., Elsea, Sarah H.
Publicado 2019

Tendon and motor phenotypes in the Crtap(-/-) mouse model of recessive osteogenesis imperfecta

por Grol, Matthew William, Haelterman, Nele A, Lim, Joohyun, Munivez, Elda M, Archer, Marilyn, Hudson, David M, Tufa, Sara F, Keene, Douglas R, Lei, Kevin, Park, Dongsu, Kuzawa, Cole D, Ambrose, Catherine G, Eyre, David R, Lee, Brendan H
Publicado 2021

Differential Effects of Collagen Prolyl 3-Hydroxylation on Skeletal Tissues

por Homan, Erica P., Lietman, Caressa, Grafe, Ingo, Lennington, Jennifer, Morello, Roy, Napierala, Dobrawa, Jiang, Ming-Ming, Munivez, Elda M., Dawson, Brian, Bertin, Terry K., Chen, Yuqing, Lua, Rhonald, Lichtarge, Olivier, Hicks, John, Weis, Mary Ann, Eyre, David, Lee, Brendan H. L.
Publicado 2014

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

por Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng-Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H
Publicado 2013

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

por Machol, Keren, Jankovic, Joseph, Vijayakumar, Dhanya, Burrage, Lindsay C., Jain, Mahim, Lewis, Richard A., Fuller, Gregory N., Xu, Mingchu, Penas-Prado, Marta, Gule-Monroe, Maria K., Rosenfeld, Jill A., Chen, Rui, Eng, Christine M., Yang, Yaping, Lee, Brendan H., Moretti, Paolo M., Dhar, Shweta U.
Publicado 2018

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

por Patel, Ronak M., Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T., Sutton, V. Reid, Fernbach, Susan D., Azamian, Mahshid, White, Lisa, Edmond, Jane C., Paysse, Evelyn A., Belmont, John W., Muzny, Donna, Lupski, James R., Gibbs, Richard A., Lewis, Richard Alan, Lee, Brendan H., Lalani, Seema R., Campeau, Philippe M.
Publicado 2017

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

por Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W., Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T., Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M., Lee, Brendan H.L., Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco
Publicado 2015

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

por Marom, Ronit, Zhang, Bo, Washington, Megan E., Song, I-Wen, Burrage, Lindsay C., Rossi, Vittoria C., Berrier, Ava S., Lindsey, Anika, Lesinski, Jacob, Nonet, Michael L., Chen, Jian, Baldridge, Dustin, Silverman, Gary A., Sutton, V. Reid, Rosenfeld, Jill A., Tran, Alyssa A., Hicks, M. John, Murdock, David R., Dai, Hongzheng, Weis, MaryAnn, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Caswell, Richard, Pottinger, Carrie, Cilliers, Deirdre, Stals, Karen, Eyre, David, Krakow, Deborah, Schedl, Tim, Pak, Stephen C., Lee, Brendan H.
Publicado 2023