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Refinado por: Base de dados/Biblioteca: Elsevier ScienceDirect Journals remover assunto: Proteins remover Mutation remover
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1
Assessing Spinal Axon Regeneration and Sprouting in Nogo-, MAG-, and OMgp-Deficient Mice
Assessing Spinal Axon Regeneration and Sprouting in Nogo-, MAG-, and OMgp-Deficient Mice
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Assessing Spinal Axon Regeneration and Sprouting in Nogo-, MAG-, and OMgp-Deficient Mice

Lee, Jae K. ; Geoffroy, Cédric G. ; Chan, Andrea F. ; Tolentino, Kristine E. ; Crawford, Michael J. ; Leal, Marisa A. ; Kang, Brian ; Zheng, Binhai

Neuron (Cambridge, Mass.), 2010-06, Vol.66 (5), p.663-670 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74
Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74
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Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

Ahmed, Zubair M. ; Yousaf, Rizwan ; Lee, Byung Cheon ; Khan, Shaheen N. ; Lee, Sue ; Lee, Kwanghyuk ; Husnain, Tayyab ; Rehman, Atteeq Ur ; Bonneux, Sarah ; Ansar, Muhammad ; Ahmad, Wasim ; Leal, Suzanne M. ; Gladyshev, Vadim N. ; Belyantseva, Inna A. ; Van Camp, Guy ; Riazuddin, Sheikh ; Friedman, Thomas B. ; Riazuddin, Saima

American journal of human genetics, 2011-01, Vol.88 (1), p.19-29 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Chong, Jessica X. ; McMillin, Margaret J. ; Shively, Kathryn M. ; Beck, Anita E. ; Marvin, Colby T. ; Armenteros, Jose R. ; Buckingham, Kati J. ; Nkinsi, Naomi T. ; Boyle, Evan A. ; Berry, Margaret N. ; Bocian, Maureen ; Foulds, Nicola ; Uzielli, Maria Luisa Giovannucci ; Haldeman-Englert, Chad ; Hennekam, Raoul C.M. ; Kaplan, Paige ; Kline, Antonie D. ; Mercer, Catherine L. ; Nowaczyk, Malgorzata J.M. ; Klein Wassink-Ruiter, Jolien S. ; McPherson, Elizabeth W. ; Moreno, Regina A. ; Scheuerle, Angela E. ; Shashi, Vandana ; Stevens, Cathy A. ; Carey, John C. ; Monteil, Arnaud ; Lory, Philippe ; Tabor, Holly K. ; Smith, Joshua D. ; Shendure, Jay ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Shendure, Jay ; Nickerson, Deborah A. ; Abecasis, Gonçalo R. ; Anderson, Peter ; Blue, Elizabeth Marchani ; Annable, Marcus ; Browning, Brian L. ; Buckingham, Kati J. ; Chen, Christina ; Chin, Jennifer ; Chong, Jessica X. ; Cooper, Gregory M. ; Davis, Colleen P. ; Frazar, Christopher ; Harrell, Tanya M. ; He, Zongxiao ; Jain, Preti ; Jarvik, Gail P. ; Jimenez, Guillaume ; Johanson, Eric ; Jun, Goo ; Kircher, Martin ; Kolar, Tom ; Krauter, Stephanie A. ; Krumm, Niklas ; Leal, Suzanne M. ; Luksic, Daniel ; Marvin, Colby T. ; McMillin, Margaret J. ; McGee, Sean ; O’Reilly, Patrick ; Paeper, Bryan ; Patterson, Karynne ; Perez, Marcos ; Phillips, Sam W. ; Pijoan, Jessica ; Poel, Christa ; Reinier, Frederic ; Robertson, Peggy D. ; Santos-Cortez, Regie ; Shaffer, Tristan ; Shephard, Cindy ; Shively, Kathryn M. ; Siegel, Deborah L. ; Smith, Joshua D. ; Staples, Jeffrey C. ; Tabor, Holly K. ; Tackett, Monica ; Underwood, Jason G. ; Wegener, Marc ; Wang, Gao ; Wheeler, Marsha M. ; Yi, Qian ; Bamshad, Michael J.

American journal of human genetics, 2015-03, Vol.96 (3), p.462-473 [Periódico revisado por pares]

United States: Elsevier Inc

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4
A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis
A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis
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A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

Ahram, Dina ; Sato, T. Shawn ; Kohilan, Abdulghani ; Tayeh, Marwan ; Chen, Shan ; Leal, Suzanne ; Al-Salem, Mahmoud ; El-Shanti, Hatem

American journal of human genetics, 2009-02, Vol.84 (2), p.274-278 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Chong, Jessica X. ; Burrage, Lindsay C. ; Beck, Anita E. ; Marvin, Colby T. ; McMillin, Margaret J. ; Shively, Kathryn M. ; Harrell, Tanya M. ; Buckingham, Kati J. ; Bacino, Carlos A. ; Jain, Mahim ; Alanay, Yasemin ; Berry, Susan A. ; Carey, John C. ; Gibbs, Richard A. ; Lee, Brendan H. ; Krakow, Deborah ; Shendure, Jay ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Shendure, Jay ; Nickerson, Deborah A. ; Abecasis, Gonçalo R. ; Anderson, Peter ; Blue, Elizabeth Marchani ; Annable, Marcus ; Browning, Brian L. ; Buckingham, Kati J. ; Chen, Christina ; Chin, Jennifer ; Chong, Jessica X. ; Cooper, Gregory M. ; Davis, Colleen P. ; Frazar, Christopher ; Harrell, Tanya M. ; He, Zongxiao ; Jain, Preti ; Jarvik, Gail P. ; Jimenez, Guillaume ; Johanson, Eric ; Jun, Goo ; Kircher, Martin ; Kolar, Tom ; Krauter, Stephanie A. ; Krumm, Niklas ; Leal, Suzanne M. ; Luksic, Daniel ; Marvin, Colby T. ; McMillin, Margaret J. ; McGee, Sean ; O’Reilly, Patrick ; Paeper, Bryan ; Patterson, Karynne ; Perez, Marcos ; Phillips, Sam W. ; Pijoan, Jessica ; Poel, Christa ; Reinier, Frederic ; Robertson, Peggy D. ; Santos-Cortez, Regie ; Shaffer, Tristan ; Shephard, Cindy ; Shively, Kathryn M. ; Siegel, Deborah L. ; Smith, Joshua D. ; Staples, Jeffrey C. ; Tabor, Holly K. ; Tackett, Monica ; Underwood, Jason G. ; Wegener, Marc ; Wang, Gao ; Wheeler, Marsha M. ; Yi, Qian ; Bamshad, Michael J.

American journal of human genetics, 2015-05, Vol.96 (5), p.841-849 [Periódico revisado por pares]

United States: Elsevier Inc

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6
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Heimer, Gali ; Kerätär, Juha M. ; Riley, Lisa G. ; Balasubramaniam, Shanti ; Eyal, Eran ; Pietikäinen, Laura P. ; Hiltunen, J. Kalervo ; Marek-Yagel, Dina ; Hamada, Jeffrey ; Gregory, Allison ; Rogers, Caleb ; Hogarth, Penelope ; Nance, Martha A. ; Shalva, Nechama ; Veber, Alvit ; Tzadok, Michal ; Nissenkorn, Andreea ; Tonduti, Davide ; Renaldo, Florence ; Bamshad, Michael J. ; Leal, Suzanne M. ; Nickerson, Deborah A. ; Anderson, Peter ; Annable, Marcus ; Blue, Elizabeth Marchani ; Buckingham, Kati J. ; Chin, Jennifer ; Chong, Jessica X. ; Cornejo, Rodolfo ; Davis, Colleen P. ; Frazar, Christopher ; He, Zongxiao ; Jarvik, Gail P. ; Jimenez, Guillaume ; Johanson, Eric ; Kolar, Tom ; Krauter, Stephanie A. ; Luksic, Daniel ; Marvin, Colby T. ; McGee, Sean ; McGoldrick, Daniel J. ; Patterson, Karynne ; Perez, Marcos ; Phillips, Sam W. ; Pijoan, Jessica ; Robertson, Peggy D. ; Santos-Cortez, Regie ; Shankar, Aditi ; Slattery, Krystal ; Shively, Kathryn M. ; Siegel, Deborah L. ; Smith, Joshua D. ; Tackett, Monica ; Wang, Gao ; Wegener, Marc ; Weiss, Jeffrey M. ; Wernick, Riana I. ; Wheeler, Marsha M. ; Yi, Qian ; Kraoua, Ichraf ; Panteghini, Celeste ; Valletta, Lorella ; Garavaglia, Barbara ; Cowley, Mark J. ; Gayevskiy, Velimir ; Roscioli, Tony ; Silberstein, Jonathon M. ; Hoffmann, Chen ; Raas-Rothschild, Annick ; Tiranti, Valeria ; Anikster, Yair ; Christodoulou, John ; Kastaniotis, Alexander J. ; Ben-Zeev, Bruria ; Hayflick, Susan J.

American journal of human genetics, 2016-12, Vol.99 (6), p.1229-1244 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Crystal structure of Apis mellifera OBP14, a C-minus odorant-binding protein, and its complexes with odorant molecules
Crystal structure of Apis mellifera OBP14, a C-minus odorant-binding protein, and its complexes with odorant molecules
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Crystal structure of Apis mellifera OBP14, a C-minus odorant-binding protein, and its complexes with odorant molecules

Spinelli, Silvia ; Lagarde, Amandine ; Iovinella, Immacolata ; Legrand, Pierre ; Tegoni, Mariella ; Pelosi, Paolo ; Cambillau, Christian

Insect biochemistry and molecular biology, 2012, Vol.42 (1), p.41-50 [Periódico revisado por pares]

England: Elsevier Ltd

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8
Unbiased identification of substrates of protein tyrosine phosphatase ptp-3 in C. elegans
Unbiased identification of substrates of protein tyrosine phosphatase ptp-3 in C. elegans
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Unbiased identification of substrates of protein tyrosine phosphatase ptp-3 in C. elegans

Mitchell, Christopher J. ; Kim, Min-Sik ; Zhong, Jun ; Nirujogi, Raja Sekhar ; Bose, Anjun K. ; Pandey, Akhilesh

Molecular oncology, 2016-06, Vol.10 (6), p.910-920 [Periódico revisado por pares]

United States: Elsevier B.V

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9
Gastric cancer
Gastric cancer
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Gastric cancer

Smyth, Elizabeth C ; Nilsson, Magnus ; Grabsch, Heike I ; van Grieken, Nicole CT ; Lordick, Florian

The Lancet (British edition), 2020-08, Vol.396 (10251), p.635-648 [Periódico revisado por pares]

London: Elsevier Ltd

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10
Loss of PDZK1 expression activates PI3K/AKT signaling via PTEN phosphorylation in gastric cancer
Loss of PDZK1 expression activates PI3K/AKT signaling via PTEN phosphorylation in gastric cancer
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Loss of PDZK1 expression activates PI3K/AKT signaling via PTEN phosphorylation in gastric cancer

Zhao, Chunjuan ; Tao, Tao ; Yang, Longyan ; Qin, Qiong ; Wang, Ying ; Liu, Hua ; Song, Ran ; Yang, Xiaomei ; Wang, Qiqi ; Gu, Siyu ; Xiong, Ying ; Zhao, Dong ; Wang, Songlin ; Feng, Duiping ; Jiang, Wen G. ; Zhang, Jun ; He, Junqi

Cancer letters, 2019-07, Vol.453, p.107-121 [Periódico revisado por pares]

Ireland: Elsevier B.V

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