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Refinado por: assunto: Mutação Genética remover
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1
Unrepaired base excision repair intermediates in template DNA strands trigger replication fork collapse and PARP inhibitor sensitivity
Unrepaired base excision repair intermediates in template DNA strands trigger replication fork collapse and PARP inhibitor sensitivity
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Unrepaired base excision repair intermediates in template DNA strands trigger replication fork collapse and PARP inhibitor sensitivity

Almudena Serrano Benitez Sophie E Wells; Lylah Drummond Clarke; Lilian Cristina Russo; John Christopher Thomas; Giovanna Araki Leal; Mark Farrow; James Michael Edgerton; Shankar Balasubramanian; Ming Yang Frezza, christian; Amit Gautam; Jan Brazina; Kamila Burdova; Nicolas Carlos Hoch; Stephen P Jackson; Keith W Caldecott

The Embo Journal Hoboken v. 42, n. 18, p. 1-19, art. e113190, 2023

Hoboken 2023

Item não circula. Consulte sua biblioteca.(Acessar)

2
Resistance to EGF receptor inhibitors in glioblastoma mediated by phosphorylation of the PTEN tumor suppressor at tyrosine 240
Resistance to EGF receptor inhibitors in glioblastoma mediated by phosphorylation of the PTEN tumor suppressor at tyrosine 240
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Resistance to EGF receptor inhibitors in glioblastoma mediated by phosphorylation of the PTEN tumor suppressor at tyrosine 240

Tim R. Fenton David Nathanson; Claudio Ponte de Albuquerque; Daisuke Kuga; Akio Iwanami; Julie Dang; Huijun Yang; Kazuhiro Tanaka; Sueli Mieko Oba-Shinjo; Miyuki Uno; Maria del Mar Inda; Jill Wykosky; Robert M Bachoo; C. David James; Ronald A DePinho; Scott R Vandenberg; Huilin Zhou; Suely K. N Marie; Paul S Mischel; Webster K Cavenee; Frank B Furnari

Proceedings of the National Academy of Sciences - PNAS Washington, DC : National Academy of Sciences v. 109, n. 35, p. 14164-14169, 2012

Washington, DC 2012

Localização: FM - Fac. Medicina    (BCSEP 475 2012 )(Acessar)

3
A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome
A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome
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A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome

Adriana A. Jesus Mazen Osman; Clovis A Silva; Peter W Kim; Tuyet-Hang Pham; Massimo Gadina; Barbara Yang; Débora R Bertola; Magda Carneiro-Sampaio; Polly J Ferguson; Blair R Renshaw; Ken Schooley; Michael Brown; Asma Al-Dosari; Jamil Al-Alami; John E Sims; Raphaela Goldbach-Mansky; Hatem El-Shanti

Arthritis & Rheumatism New York v. 63, n. 12, p. 4007-4017, 2011

New York 2011

Acesso online. A biblioteca também possui exemplares impressos.

4
A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome
A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome

Adriana A. Jesus Mazen Osman; Clovis A Silva; Peter W Kim; Tuyet-Hang Pham; Massimo Gadina; Barbara Yang; Débora R Bertola; Magda Carneiro-Sampaio; Polly J Ferguson; Blair R Renshaw; Ken Schooley; Michael Brown; Asma Al-Dosari; Jamil Al-Alami; John E Sims; Raphaela Goldbach-Mansky; Hatem El-Shanti

Arthritis & Rheumatism New York v. 63, n. 12, p. 4007-4017, 2011

New York 2011

Acesso online. A biblioteca também possui exemplares impressos.

5
Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas
Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas
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Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas

Theo A. Knijnenburg Linghua Wang; Michael T Zimmermann; Nyasha Chambwe; Galen F Gao; Andrew D Cherniack; Huihui Fan; Hui Shen; Gregory P Way; Casey S Greene; Yuexin Liu; Rehan Akbani; Bin Feng; Lawrence A Donehower; Chase Miller; Yang Shen; Mostafa Karimi; Haoran Chen; Pora Kim; Peilin Jia; Eve Shinbrot; Shaojun Zhang; Jianfang Liu; Hai Hu; Matthew H Bailey; Christina Yau; Denise M Wolf; Zhongming Zhao; John N Weinstein; Lei Li; Li Ding; Gordon B Mills; Peter W Laird; David A Wheeler; Ilya Shmulevich; Raymond J Monnat Junior; Yonghong Xiao; Chen Wang; Houtan Noushmehr; Carlos Gilberto Carlotti Júnior; José Sebastião dos Santos; Rafael Kemp; Ajith Kumar Sankarankuty; Daniela Pretti da Cunha Tirapelli; The Cancer Genome Atlas Research Network

Cell Reports Cambridge v. 23, n. 1, p. 239-254, 2018

Cambridge 2018

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2938364 Estantes Deslizantes )(Acessar)

6
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
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K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Nancy Mokbel Biljana Ilkovski; Michaela Kreissl; Massimiliano Memo; Cy M Jeffries; Minttu Marttila; Vilma-Lotta Lehtokari; Elina Lemola; Mikaela Grönholm; Nan Yang; Dominique Menard; Pascale Marcorelles; Andoni Echaniz-Laguna; Jens Reimann; Nicole Monnier; Gianina Ravenscroft; Elyshia McNamara; Kristen J Nowak; Nigel G Laing; Carina Wallgren-Pettersson; Jill Trewhella; Steve Marston; Coen Ottenheijm; Kathryn N North; Nigel F Clarke; Vainzof, Mariz

Brain Oxford v. 136, n. 2, p. 494-507, 2013

Oxford 2013

Item não circula. Consulte sua biblioteca.(Acessar)

7
Metabolic reprogramming associated with aggressiveness occurs in the G-CIMP-high molecular subtypes of IDH1mut lower grade gliomas
Metabolic reprogramming associated with aggressiveness occurs in the G-CIMP-high molecular subtypes of IDH1mut lower grade gliomas
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Metabolic reprogramming associated with aggressiveness occurs in the G-CIMP-high molecular subtypes of IDH1mut lower grade gliomas

Victor Ruiz-Rodado Tathiane Maistro Malta; Tomohiro Seki; Adrian Lita; Tyrone Dowdy; Orieta Celiku; Alejandra Cavazos-Saldana; Aiguo Li; Yang Liu; Sue Han; Wei Zhang; Hua Song; Dionne Davis; Sunmin Lee; Jane B Trepel; Thais Sarraf Sabedot; Jeeva Munasinghe; Chunzhang Yang; Christel Herold-Mende; Mark R Gilbert; Murali Krishna Cherukuri; Houtan Noushmehr; Mioara Larion

Neuro-Oncology Cary v. 22, n. 4, p. 480-492, 2020

Cary 2020

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 3026921 Acervo Digital )(Acessar)

8
Corrigendum to NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss
Corrigendum to NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss
Material Type:
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Corrigendum to NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss

Rodrigo Salazar da Silva Vitor Lima Goes Dantas; Leandro Ucela Alves; Ana Carla Batissoco; Jeanne Oiticica; Elizabeth A Lawrence; Abdelwahab Kawafi; Yishi Yang; Fernanda Stávale Nicastro; Beatriz Caiuby Novaes; Chrissy Hammond; Érika Kague; Regina Celia Mingroni Netto

Human Molecular Genetics Oxford v. 31, n. 1, p156, Jan. 2022

Oxford 2022

Item não circula. Consulte sua biblioteca.(Acessar)

9
NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss
NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss
Material Type:
Artigo 		Adicionar ao Meu Espaço

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss

Rodrigo Salazar da Silva Vitor Lima Goes Dantas; Leandro Ucela Alves; Ana Carla Batissoco; Jeanne Oiticica; Elizabeth A Lawrence; Abdelwahab Kawafi; Yishi Yang; Fernanda Stávale Nicastro; Beatriz Caiuby Novaes; Chrissy Hammond; Érika Kague; Regina Celia Mingroni Netto

Human Molecular Genetics Oxford, United Kingdom v.29, n.2, p.3691–3705, 2020

Oxford, United Kingdom 2020

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Kim, P
  2. Jesus, A
  3. Noushmehr, H
  4. Al-Alami, J
  5. Silva, C

Neste Assunto:

  1. Fenótipos
  2. Imunofenotipagem
  3. Interleucina 1 (Deficiência)
  4. Genômica
  5. Doenças Autoimunes

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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