Works matching IS 09646906 AND DT 2019 AND VI 28

Results: 361
    1

    Methylation changes in the peripheral blood of Filipinos with type 2 diabetes suggest spurious transcription initiation at TXNIP.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4208, doi. 10.1093/hmg/ddz262
    By:
    • Albao, Dominic S;
    • Paz, Eva Maria Cutiongco-de la;
    • Mercado, Maria Elizabeth;
    • Lirio, Alvin;
    • Mariano, Margarette;
    • Kim, Sarah;
    • Yangco, Ariane;
    • Melegrito, Jodelyn;
    • Wad-asen, Kate;
    • Gauran, Iris Ivy;
    • Francisco, Marie Angeline;
    • Santos-Acuin, Cecilia;
    • David-Padilla, Carmencita;
    • Murphy, Elizabeth J;
    • Paz-Pacheco, Elizabeth;
    • Seielstad, Mark
    Publication type:
    Article
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    Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4089, doi. 10.1093/hmg/ddz254
    By:
    • Poeta, Loredana;
    • Padula, Agnese;
    • Attianese, Benedetta;
    • Valentino, Mariaelena;
    • Verrillo, Lucia;
    • Filosa, Stefania;
    • Shoubridge, Cheryl;
    • Barra, Adriano;
    • Schwartz, Charles E;
    • Christensen, Jesper;
    • Bokhoven, Hans van;
    • Helin, Kristian;
    • Lioi, Maria Brigida;
    • Collombat, Patrick;
    • Gecz, Jozef;
    • Altucci, Lucia;
    • Schiavi, Elia Di;
    • Miano, Maria Giuseppina
    Publication type:
    Article
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    ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4053, doi. 10.1093/hmg/ddz225
    By:
    • Holdener, Bernadette C;
    • Percival, Christopher J;
    • Grady, Richard C;
    • Cameron, Daniel C;
    • Berardinelli, Steven J;
    • Zhang, Ao;
    • Neupane, Sanjiv;
    • Takeuchi, Megumi;
    • Jimenez-Vega, Javier C;
    • Uddin, Sardar M Z;
    • Komatsu, David E;
    • Honkanen, Robert;
    • Dubail, Johanne;
    • Apte, Suneel S;
    • Sato, Takashi;
    • Narimatsu, Hisashi;
    • McClain, Steve A;
    • Haltiwanger, Robert S
    Publication type:
    Article
    6

    Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4161, doi. 10.1093/hmg/ddz263
    By:
    • Wu, Ying;
    • Broadaway, K Alaine;
    • Raulerson, Chelsea K;
    • Scott, Laura J;
    • Pan, Calvin;
    • Ko, Arthur;
    • He, Aiqing;
    • Tilford, Charles;
    • Fuchsberger, Christian;
    • Locke, Adam E;
    • Stringham, Heather M;
    • Jackson, Anne U;
    • Narisu, Narisu;
    • Kuusisto, Johanna;
    • Pajukanta, Päivi;
    • Collins, Francis S;
    • Boehnke, Michael;
    • Laakso, Markku;
    • Lusis, Aldons J;
    • Civelek, Mete
    Publication type:
    Article
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    BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4148, doi. 10.1093/hmg/ddz252
    By:
    • Bose, Muthiah;
    • Sachsenweger, Juliane;
    • Laurila, Niina;
    • Parplys, Ann Christin;
    • Willmann, Jonas;
    • Jungwirth, Johannes;
    • Groth, Marco;
    • Rapakko, Katrin;
    • Nieminen, Pentti;
    • Friedl, Thomas W P;
    • Heiserich, Lisa;
    • Meyer, Felix;
    • Tuppurainen, Hanna;
    • Peltoketo, Hellevi;
    • Nevanlinna, Heli;
    • Pylkäs, Katri;
    • Borgmann, Kerstin;
    • Wiesmüller, Lisa;
    • Winqvist, Robert;
    • Pospiech, Helmut
    Publication type:
    Article
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    The consequences of increased 4E-BP1 in polycystic kidney disease.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4132, doi. 10.1093/hmg/ddz244
    By:
    • Holditch, Sara J;
    • Brown, Carolyn N;
    • Atwood, Daniel J;
    • Pokhrel, Deepak;
    • Brown, Sara E;
    • Lombardi, Andrew M;
    • Nguyen, Khoa N;
    • Hill, Ryan C;
    • Lanaspa, Miguel;
    • Hopp, Katharina;
    • Weiser-Evans, Mary C M;
    • Edelstein, Charles L
    Publication type:
    Article
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    Physiological and pathological roles of LRRK2 in the nuclear envelope integrity.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 23, p. 3982, doi. 10.1093/hmg/ddz245
    By:
    • Shani, Vered;
    • Safory, Hazem;
    • Szargel, Raymonde;
    • Wang, Ninghan;
    • Cohen, Tsipora;
    • Elghani, Fatimah Abd;
    • Hamza, Haya;
    • Savyon, Mor;
    • Radzishevsky, Inna;
    • Shaulov, Lihi;
    • Rott, Ruth;
    • Lim, Kah-Leong;
    • Ross, Christopher A.;
    • Bandopadhyay, Rina;
    • Zhang, Hui;
    • Engelender, Simone
    Publication type:
    Article
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    Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 23, p. 3970, doi. 10.1093/hmg/ddz134
    By:
    • Fakhro, Khalid A.;
    • Robay, Amal;
    • Rodriguez-Flores, Juan L.;
    • Mezey, Jason G.;
    • Al-Shakaki, Alya A.;
    • Chidiac, Omar;
    • Stadler, Dora J.;
    • Malek, Joel A.;
    • Imam, Abu Bakr;
    • Sheikh, Arwa;
    • Azzam, Asmaa;
    • Janahi, Ibrahim;
    • Khanjar, Izzat;
    • Osman, Kamal;
    • Ziki, Maen Abou;
    • Mahmah, Mohamed Adnan;
    • Selim, Mohamed;
    • Nimeri, Nuha;
    • Ali, Rehab;
    • Lakhani, Shenela
    Publication type:
    Article
    19

    Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 23, p. 3928, doi. 10.1093/hmg/ddz234
    By:
    • Hughes, Juliette H.;
    • Liu, Ke;
    • Plagge, Antonius;
    • Wilson, Peter J.M.;
    • Sutherland, Hazel;
    • Norman, Brendan P;
    • Hughes, Andrew T.;
    • Keenan, Craig M;
    • Milan, Anna M.;
    • Sakai, Takao;
    • Ranganath, Lakshminarayan R.;
    • Gallagher, James A.;
    • Bou-Gharios, George
    Publication type:
    Article
    20

    Functional assessment of variants associated with Wolfram syndrome.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3815, doi. 10.1093/hmg/ddz212
    By:
    • Riachi, Melissa;
    • Yilmaz, Sebahat;
    • Kurnaz, Erdal;
    • Aycan, Zehra;
    • Çetinkaya, Semra;
    • Tranebjærg, Lisbeth;
    • Rendtorff, Nanna Dahl;
    • Bitner-Glindzicz, Maria;
    • Bockenhauer, Detlef;
    • Hussain, Khalid
    Publication type:
    Article
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    The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 23, p. 3912, doi. 10.1093/hmg/ddz239
    By:
    • Strafella, Claudia;
    • Caputo, Valerio;
    • Galota, Rosaria Maria;
    • Campoli, Giulia;
    • Bax, Cristina;
    • Colantoni, Luca;
    • Minozzi, Giulietta;
    • Orsini, Chiara;
    • Politano, Luisa;
    • Tasca, Giorgio;
    • Novelli, Giuseppe;
    • Ricci, Enzo;
    • Giardina, Emiliano;
    • Cascella, Raffaella
    Publication type:
    Article
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    Mutations in CHCHD2 cause α-synuclein aggregation.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 23, p. 3895, doi. 10.1093/hmg/ddz241
    By:
    • Ikeda, Aya;
    • Nishioka, Kenya;
    • Meng, Hongrui;
    • Takanashi, Masashi;
    • Hasegawa, Iwao;
    • Inoshita, Tsuyoshi;
    • Shiba-Fukushima, Kahori;
    • Li, Yuanzhe;
    • Yoshino, Hiroyo;
    • Mori, Akio;
    • Okuzumi, Ayami;
    • Yamaguchi, Akihiro;
    • Nonaka, Risa;
    • Izawa, Nana;
    • Ishikawa, Kei-ichi;
    • Saiki, Hidemoto;
    • Morita, Masayo;
    • Hasegawa, Masato;
    • Hasegawa, Kazuko;
    • Elahi, Montasir
    Publication type:
    Article
    28

    PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3805, doi. 10.1093/hmg/ddz237
    By:
    • Pelet, Anna;
    • Skopova, Vaclava;
    • Steuerwald, Ulrike;
    • Baresova, Veronika;
    • Zarhrate, Mohammed;
    • Plaza, Jean-Marc;
    • Hnizda, Ales;
    • Krijt, Matyas;
    • Souckova, Olga;
    • Wibrand, Flemming;
    • Andorsdóttir, Guðrið;
    • Joensen, Fróði;
    • Sedlak, David;
    • Bleyer, Anthony J;
    • Kmoch, Stanislav;
    • Lyonnet, Stanislas;
    • Zikanova, Marie
    Publication type:
    Article
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    Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3853, doi. 10.1093/hmg/ddz219
    By:
    • Abdellaoui, Abdel;
    • Sanchez-Roige, Sandra;
    • Sealock, Julia;
    • Treur, Jorien L;
    • Dennis, Jessica;
    • Fontanillas, Pierre;
    • Elson, Sarah;
    • Team, The 23andme Research;
    • Nivard, Michel G;
    • Ip, Hill Fung;
    • van der Zee, Matthijs;
    • Baselmans, Bart M L;
    • Hottenga, Jouke Jan;
    • Willemsen, Gonneke;
    • Mosing, Miriam;
    • Lu, Yi;
    • Pedersen, Nancy L;
    • Denys, Damiaan;
    • Amin, Najaf;
    • Duijn, Cornelia M van
    Publication type:
    Article
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    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
    By:
    • Pelorosso, Cristiana;
    • Watrin, Françoise;
    • Conti, Valerio;
    • Buhler, Emmanuelle;
    • Gelot, Antoinette;
    • Yang, Xiaoxu;
    • Mei, Davide;
    • McEvoy-Venneri, Jennifer;
    • Manent, Jean-Bernard;
    • Cetica, Valentina;
    • Ball, Laurel L;
    • Buccoliero, Anna Maria;
    • Vinck, Antonin;
    • Barba, Carmen;
    • Gleeson, Joseph G;
    • Guerrini, Renzo;
    • Represa, Alfonso
    Publication type:
    Article
    38

    Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
    By:
    • Vervoort, Lisanne;
    • Demaerel, Wolfram;
    • Rengifo, Laura Y;
    • Odrzywolski, Adrian;
    • Vergaelen, Elfi;
    • Hestand, Matthew S;
    • Breckpot, Jeroen;
    • Devriendt, Koen;
    • Swillen, Ann;
    • McDonald-McGinn, Donna M;
    • Fiksinski, Ania M;
    • Zinkstok, Janneke R;
    • Morrow, Bernice E;
    • Heung, Tracy;
    • Vorstman, Jacob A S;
    • Bassett, Anne S;
    • Chow, Eva W C;
    • Shashi, Vandana;
    • Brain, International 22q11.2;
    • Consortium, Behavior
    Publication type:
    Article
    39

    Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169
    By:
    • Wood, Katherine A;
    • Rowlands, Charlie F;
    • Qureshi, Wasay Mohiuddin Shaikh;
    • Thomas, Huw B;
    • Buczek, Weronika A;
    • Briggs, Tracy A;
    • Hubbard, Simon J;
    • Hentges, Kathryn E;
    • Newman, William G;
    • O'Keefe, Raymond T
    Publication type:
    Article
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    A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 21, p. 3543, doi. 10.1093/hmg/ddz200
    By:
    • Rautengarten, Carsten;
    • Quarrell, Oliver W;
    • Stals, Karen;
    • Caswell, Richard C;
    • Franco, Elisa De;
    • Baple, Emma;
    • Burgess, Nadia;
    • Jokhi, Roobin;
    • Heazlewood, Joshua L;
    • Offiah, Amaka C;
    • Ebert, Berit;
    • Ellard, Sian
    Publication type:
    Article
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    Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 20, p. 3391, doi. 10.1093/hmg/ddz186
    By:
    • Pagnamenta, Alistair T;
    • Heemeryck, Pierre;
    • Martin, Hilary C;
    • Bosc, Christophe;
    • Peris, Leticia;
    • Uszynski, Ivy;
    • Gory-Fauré, Sylvie;
    • Couly, Simon;
    • Deshpande, Charu;
    • Siddiqui, Ata;
    • Elmonairy, Alaa A;
    • Consortium, WGS500;
    • Consortium, Genomics England Research;
    • Jayawant, Sandeep;
    • Murthy, Sarada;
    • Walker, Ian;
    • Loong, Lucy;
    • Bauer, Peter;
    • Vossier, Frédérique;
    • Denarier, Eric
    Publication type:
    Article