Pesquisa | BVS Violência e Saúde

1.

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang, Liyun; Miller, Julie J; Corbit, Kevin C; Giles, Rachel H; Brauer, Matthew J; Otto, Edgar A; Baye, Lisa M; Wen, Xiaohui; Scales, Suzie J; Kwong, Mandy; Huntzicker, Erik G; Sfakianos, Mindan K; Sandoval, Wendy; Bazan, J Fernando; Kulkarni, Priya; Garcia-Gonzalo, Francesc R; Seol, Allen D; O'Toole, John F; Held, Susanne; Reutter, Heiko M; Lane, William S; Rafiq, Muhammad Arshad; Noor, Abdul; Ansar, Muhammad; Devi, Akella Radha Rama; Sheffield, Val C; Slusarski, Diane C; Vincent, John B; Doherty, Daniel A; Hildebrandt, Friedhelm; Reiter, Jeremy F; Jackson, Peter K.

Cell ; 145(4): 513-28, 2011 May 13.

Artigo em Inglês | MEDLINE | ID: mdl-21565611

2.

MeCP2 ubiquitination and sumoylation, in search of a function.

Kalani, Ladan; Kim, Bo-Hyun; Vincent, John B; Ausió, Juan.

Hum Mol Genet ; 33(1): 1-11, 2023 Dec 12.

Artigo em Inglês | MEDLINE | ID: mdl-37694858

3.

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Almousa, Hashem; Lewis, Sara A; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A; Cornejo, Patricia; Zaki, Maha S; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurélien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O; Hashem, Mais O; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gözde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B; Innes, A Micheil; Dursun, Ali; Özgül, R Köksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia.

Brain ; 147(1): 311-324, 2024 01 04.

Artigo em Inglês | MEDLINE | ID: mdl-37713627

4.

MeCP2: latest insights fundamentally change our understanding of its interactions with chromatin and its functional attributes.

Vincent, John B; Ausió, Juan.

Bioessays ; 43(3): e2000281, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-33416207

5.

Electron paramagnetic spectrum of dimanganic human serum transferrin.

Lockart, Molly M; Edwards, Kyle C; Vincent, John B; Pierce, Brad S.

Polyhedron ; 2032021 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-37034105

6.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi, Zohreh; Sheikh, Taimoor I; Musante, Luciana; Rasheed, Memoona; Taskiran, Ibrahim Ihsan; Harripaul, Ricardo; Hu, Hao; Kazeminasab, Somayeh; Alam, Muhammad Rizwan; Hosseini, Masoumeh; Larti, Farzaneh; Ghaderi, Zhila; Celik, Arzu; Ayub, Muhammad; Ansar, Muhammad; Haddadi, Mohammad; Wienker, Thomas F; Ropers, Hans Hilger; Kahrizi, Kimia; Vincent, John B; Najmabadi, Hossein.

Hum Mol Genet ; 27(18): 3177-3188, 2018 09 15.

Artigo em Inglês | MEDLINE | ID: mdl-29893856

7.

Molecular Structure of Binary Chromium(III)-DNA Adducts.

Brown, Silas; Lockart, Molly M; Thomas, C Sumner; Bowman, Michael K; Woski, Stephen A; Vincent, John B.

Chembiochem ; 21(5): 628-631, 2020 03 02.

Artigo em Inglês | MEDLINE | ID: mdl-31472032

8.

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

Pastore, Stephen; Harripaul, Ricardo; Azam, Matloob; Vincent, John B.

J Hum Genet ; 65(5): 493-496, 2020 May.

Artigo em Inglês | MEDLINE | ID: mdl-32127623

9.

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.

Sheikh, Taimoor I; de Paz, Alexia Martínez; Akhtar, Shamim; Ausió, Juan; Vincent, John B.

Hum Mol Genet ; 26(21): 4132-4141, 2017 11 01.

Artigo em Inglês | MEDLINE | ID: mdl-28973632

10.

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Gul, Hadia; Shah, Abdul Haleem; Harripaul, Ricardo; Mikhailov, Anna; Prajapati, Kamalben; Khan, Ejazullah; Ullah, Farman; Zubair, Muhammad; Ali, Muhammad Zeeshan; Shah, Ayesha Haleem; Salman, Said; Khan, Saadullah; Vincent, John B; Khan, Muzammil Ahmad.

Ann Hum Genet ; 83(4): 278-284, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-30868578

11.

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Ouyang, Qing; Kavanaugh, Brian C; Joesch-Cohen, Lena; Dubois, Bethany; Wu, Qing; Schmidt, Michael; Baytas, Ozan; Pastore, Stephen F; Harripaul, Ricardo; Mishra, Sasmita; Hussain, Abrar; Kim, Katherine H; Holler-Managan, Yolanda F; Ayub, Muhammad; Mir, Asif; Vincent, John B; Liu, Judy S; Morrow, Eric M.

Hum Genet ; 138(10): 1183-1200, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31471722

12.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Johansen, Anide; Rosti, Rasim O; Musaev, Damir; Sticca, Evan; Harripaul, Ricardo; Zaki, Maha; Çaglayan, Ahmet Okay; Azam, Matloob; Sultan, Tipu; Froukh, Tawfiq; Reis, André; Popp, Bernt; Ahmed, Iltaf; John, Peter; Ayub, Muhammad; Ben-Omran, Tawfeg; Vincent, John B; Gleeson, Joseph G; Abou Jamra, Rami.

Am J Hum Genet ; 99(4): 912-916, 2016 Oct 06.

Artigo em Inglês | MEDLINE | ID: mdl-27616480

13.

Effects of chromium supplementation on body composition, human and animal health, and insulin and glucose metabolism.

Vincent, John B.

Curr Opin Clin Nutr Metab Care ; 22(6): 483-489, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31577642

14.

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Sriretnakumar, Venuja; Harripaul, Ricardo; Vincent, John B; Kennedy, James L; So, Joyce.

Am J Med Genet B Neuropsychiatr Genet ; 180(1): 46-54, 2019 01.

Artigo em Inglês | MEDLINE | ID: mdl-30556376

15.

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Sheikh, Taimoor I; Harripaul, Ricardo; Ayub, Muhammad; Vincent, John B.

Hum Mutat ; 39(5): 717-728, 2018 05.

Artigo em Inglês | MEDLINE | ID: mdl-29431277

16.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Ahmed, Iltaf; Buchert, Rebecca; Zhou, Mi; Jiao, Xinfu; Mittal, Kirti; Sheikh, Taimoor I; Scheller, Ute; Vasli, Nasim; Rafiq, Muhammad Arshad; Brohi, M Qasim; Mikhailov, Anna; Ayaz, Muhammad; Bhatti, Attya; Sticht, Heinrich; Nasr, Tanveer; Carter, Melissa T; Uebe, Steffen; Reis, André; Ayub, Muhammad; John, Peter; Kiledjian, Megerditch; Vincent, John B; Jamra, Rami Abou.

Hum Mol Genet ; 24(11): 3172-80, 2015 Jun 01.

Artigo em Inglês | MEDLINE | ID: mdl-25701870

17.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J M; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D James; Carter, Melissa T; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B.

Hum Mol Genet ; 24(20): 5697-710, 2015 Oct 15.

Artigo em Inglês | MEDLINE | ID: mdl-26206890

18.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Law, Rosalind; Dixon-Salazar, Tracy; Jerber, Julie; Cai, Na; Abbasi, Ansar A; Zaki, Maha S; Mittal, Kirti; Gabriel, Stacey B; Rafiq, Muhammad Arshad; Khan, Valeed; Nguyen, Maria; Ali, Ghazanfar; Copeland, Brett; Scott, Eric; Vasli, Nasim; Mikhailov, Anna; Khan, Muhammad Nasim; Andrade, Danielle M; Ayaz, Muhammad; Ansar, Muhammad; Ayub, Muhammad; Vincent, John B; Gleeson, Joseph G.

Am J Hum Genet ; 95(6): 721-8, 2014 Dec 04.

Artigo em Inglês | MEDLINE | ID: mdl-25480035

19.

New Evidence against Chromium as an Essential Trace Element.

Vincent, John B.

J Nutr ; 147(12): 2212-2219, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-29021369

20.

Investigation of correlations between DNA methylation, suicidal behavior and aging.

Jeremian, Richie; Chen, Yi-An; De Luca, Vincenzo; Vincent, John B; Kennedy, James L; Zai, Clement C; Strauss, John.

Bipolar Disord ; 19(1): 32-40, 2017 02.

Artigo em Inglês | MEDLINE | ID: mdl-28276657

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