Understanding Genetic Factors in Idiopathic Scoliosis, a Complex Disease of Childhood

por Wise, Carol A, Gao, Xiaochong, Shoemaker, Scott, Gordon, Derek, Herring, John A
Publicado 2008

TDT-HET: A new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data

por Londono, Douglas, Buyske, Steven, Finch, Stephen J, Sharma, Swarkar, Wise, Carol A, Gordon, Derek
Publicado 2012

ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease

por Hayes, Madeline, Gao, Xiaochong, Yu, Lisa X, Paria, Nandina, Henkelman, R. Mark, Wise, Carol A., Ciruna, Brian
Publicado 2014

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

por Rios, Jonathan J., Paria, Nandina, Burns, Dennis K., Israel, Bonnie A., Cornelia, Reuel, Wise, Carol A., Ezaki, Marybeth
Publicado 2013

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

por Patel, Chandreshkumar, Khanshour, Anas M., Wilkes, David, Rios, Jonathan J., Sheff, Kelly W., Nassi, Lorien, Wise, Carol A.
Publicado 2020

Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality

por Ushiki, Aki, Sheng, Rory R., Zhang, Yichi, Zhao, Jingjing, Nobuhara, Mai, Murray, Elizabeth, Ruan, Xin, Rios, Jonathan J., Wise, Carol A., Ahituv, Nadav
Publicado 2023

Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1

por Paria, Nandina, Khalid, Aysha, Shen, Bo, Lemoine, Ben, Chan, Jinyan, Kidane, Yared H, Oxendine, Ila, Cornelia, Reuel, Wise, Carol A, Rios, Jonathan J
Publicado 2022

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

por McGregor, Tracy L, Gurnett, Christina A, Dobbs, Matthew B, Wise, Carol A, Morcuende, Jose A, Morgan, Thomas M, Menon, Ramkumar, Muglia, Louis J
Publicado 2011

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

por Smith, Elisabeth J, Allantaz, Florence, Bennett, Lynda, Zhang, Dongping, Gao, Xiaochong, Wood, Geryl, Kastner, Daniel L, Punaro, Marilynn, Aksentijevich, Ivona, Pascual, Virginia, Wise, Carol A
Publicado 2010

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India

por Rai, Ekta, Mahajan, Ankit, Kumar, Parvinder, Angural, Arshia, Dhar, Manoj K, Razdan, Sushil, Thangaraj, Kumarasamy, Wise, Carol A., Ikegawa, Shiro, Pandita, Kamal Kishore, Sharma, Swarkar
Publicado 2016

Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome

por Makki, Nadja, Zhao, Jingjing, Liu, Zhaoyang, Eckalbar, Walter L, Ushiki, Aki, Khanshour, Anas M, Wu, Joe, Rios, Jonathan, Gray, Ryan S, Wise, Carol A, Ahituv, Nadav
Publicado 2020

The cartilage matrisome in adolescent idiopathic scoliosis

por Wise, Carol A., Sepich, Diane, Ushiki, Aki, Khanshour, Anas M., Kidane, Yared H., Makki, Nadja, Gurnett, Christina A., Gray, Ryan S., Rios, Jonathan J., Ahituv, Nadav, Solnica-Krezel, Lila
Publicado 2020

Saturation mutagenesis defines novel mouse models of severe spine deformity

por Rios, Jonathan J., Denton, Kristin, Yu, Hao, Manickam, Kandamurugu, Garner, Shannon, Russell, Jamie, Ludwig, Sara, Rosenfeld, Jill A., Liu, Pengfei, Munch, Jake, Sucato, Daniel J., Beutler, Bruce, Wise, Carol A.
Publicado 2021

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

por Sharma, Swarkar, Londono, Douglas, Eckalbar, Walter L., Gao, Xiaochong, Zhang, Dongping, Mauldin, Kristen, Kou, Ikuyo, Takahashi, Atsushi, Matsumoto, Morio, Kamiya, Nobuhiro, Murphy, Karl K., Cornelia, Reuel, Herring, John A., Burns, Dennis, Ahituv, Nadav, Ikegawa, Shiro, Gordon, Derek, Wise, Carol A.
Publicado 2015

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

por Ogura, Yoji, Takeda, Kazuki, Kou, Ikuyo, Khanshour, Anas, Grauers, Anna, Zhou, Hang, Liu, Gang, Fan, Yan-Hui, Zhou, Taifeng, Wu, Zhihong, Takahashi, Yohei, Matsumoto, Morio, Einarsdottir, Elisabet, Kere, Juha, Huang, Dongsheng, Qiu, Guixing, Xu, Leilei, Qiu, Yong, Wise, Carol A., Song, You-Qiang, Wu, Nan, Su, Peiqiang, Gerdhem, Paul, Watanabe, Kota, Ikegawa, Shiro
Publicado 2018

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

por Martin, Carol-Anne, Murray, Jennie E., Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J., Halachev, Mihail, Fetit, Ahmed E., Keith, Charlotte, Bicknell, Louise S., Fluteau, Adeline, Gautier, Philippe, Hall, Emma A., Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B., Duker, Angela, Wise, Carol A., Quigley, Alan J., Phadke, Shubha R., Wood, Andrew J., Vagnarelli, Paola, Jackson, Andrew P.
Publicado 2016

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

por Kou, Ikuyo, Watanabe, Kota, Takahashi, Yohei, Momozawa, Yukihide, Khanshour, Anas, Grauers, Anna, Zhou, Hang, Liu, Gang, Fan, Yan-Hui, Takeda, Kazuki, Ogura, Yoji, Zhou, Taifeng, Iwasaki, Yusuke, Kubo, Michiaki, Wu, Zhihong, Matsumoto, Morio, Einarsdottir, Elisabet, Kere, Juha, Huang, Dongsheng, Qiu, Guixing, Qiu, Yong, Wise, Carol A., Song, You-Qiang, Wu, Nan, Su, Peiqiang, Gerdhem, Paul, Ikegawa, Shiro
Publicado 2018

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014

Genomewide Scan Reveals Association of Psoriasis with IL-23 and NF-κB Pathways

por Nair, Rajan P., Duffin, Kristina Callis, Helms, Cindy, Ding, Jun, Stuart, Philip E., Goldgar, David, Gudjonsson, Johann E., Li, Yun, Tejasvi, Trilokraj, Feng, Bing Jian, Ruether, Andreas, Schreiber, Stefan, Weichenthal, Michael, Gladman, Dafna, Rahman, Proton, Schrodi, Steven J., Prahalad, Sampath, Guthery, Stephen L, Fischer, Judith, Liao, Wilson, Kwok, Pui-Yan, Menter, Alan, Lathrop, G. Mark, Wise, Carol A., Begovich, Ann B., Voorhees, John J., Elder, James T., Krueger, Gerald G., Bowcock, Anne M., Abecasis, Gonçalo R.
Publicado 2009

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

por Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Publicado 2011