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H2A monoubiquitination: insights from human genetics and animal models.
Published in:
Human Genetics, 2024, v. 143, n. 4, p. 511, doi. 10.1007/s00439-023-02557-x
By:
- Ryan, Charles W.;
- Peirent, Emily R.;
- Regan, Samantha L.;
- Guxholli, Alba;
- Bielas, Stephanie L.
Publication type:
Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Published in:
Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
By:
- Lee, Ji Eun;
- Silhavy, Jennifer L;
- Zaki, Maha S;
- Schroth, Jana;
- Bielas, Stephanie L;
- Marsh, Sarah E;
- Olvera, Jesus;
- Brancati, Francesco;
- Iannicelli, Miriam;
- Ikegami, Koji;
- Schlossman, Andrew M;
- Merriman, Barry;
- Attié-Bitach, Tania;
- Logan, Clare V;
- Glass, Ian A;
- Cluckey, Andrew;
- Louie, Carrie M;
- Lee, Jeong Ho;
- Raynes, Hilary R;
- Rapin, Isabelle
Publication type:
Article
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Published in:
Nature Genetics, 2009, v. 41, n. 9, p. 1032, doi. 10.1038/ng.423
By:
- Bielas, Stephanie L.;
- Silhavy, Jennifer L.;
- Brancati, Francesco;
- Kisseleva, Marina V.;
- Al-Gazali, Lihadh;
- Sztriha, Laszlo;
- Bayoumi, Riad A.;
- Zaki, Maha S;
- Abdel-Aleem, Alice;
- Rosti, Rasim Ozgur;
- Kayserili, Hulya;
- Swistun, Dominika;
- Scott, Lesley C.;
- Bertini, Enrico;
- Boltshauser, Eugen;
- Fazzi, Elisa;
- Travaglini, Lorena;
- Field, Seth J.;
- Gayral, Stephanie;
- Jacoby, Monique
Publication type:
Article
Quiescence enables unrestricted cell fate in naive embryonic stem cells.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46121-1
By:
- Khoa, Le Tran Phuc;
- Yang, Wentao;
- Shan, Mengrou;
- Zhang, Li;
- Mao, Fengbiao;
- Zhou, Bo;
- Li, Qiang;
- Malcore, Rebecca;
- Harris, Clair;
- Zhao, Lili;
- Rao, Rajesh;
- Iwase, Shigeki;
- Kalantry, Sundeep;
- Bielas, Stephanie L.;
- Lyssiotis, Costas A.;
- Dou, Yali
Publication type:
Article
Quiescence enables unrestricted cell fate in naive embryonic stem cells.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46121-1
By:
- Khoa, Le Tran Phuc;
- Yang, Wentao;
- Shan, Mengrou;
- Zhang, Li;
- Mao, Fengbiao;
- Zhou, Bo;
- Li, Qiang;
- Malcore, Rebecca;
- Harris, Clair;
- Zhao, Lili;
- Rao, Rajesh;
- Iwase, Shigeki;
- Kalantry, Sundeep;
- Bielas, Stephanie L.;
- Lyssiotis, Costas A.;
- Dou, Yali
Publication type:
Article
CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-74537-4
By:
- Yao, Hui;
- Hannum, Douglas F.;
- Zhai, Yiwen;
- Hill, Sophie F.;
- Albanus, Ricardo D.'Oliveira;
- Lou, Wenjia;
- Skidmore, Jennifer M.;
- Sanchez, Gilson;
- Saiakhova, Alina;
- Bielas, Stephanie L.;
- Scacheri, Peter;
- Ljungman, Mats;
- Parker, Stephen C. J.;
- Martin, Donna M.
Publication type:
Article
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 3, p. 597, doi. 10.1093/hmg/ddv499
By:
- Srivastava, Anshika;
- Ritesh, K. C.;
- Yao-Chang Tsan;
- Liao, Rosy;
- Fengyun Su;
- Xuhong Cao;
- Hannibal, Mark C.;
- Keegan, Catherine E.;
- Chinnaiyan, Arul M.;
- Martin, Donna M.;
- Bielas, Stephanie L.
Publication type:
Article
Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos.
Published in:
Frontiers in Physiology, 2020, p. 1, doi. 10.3389/fphys.2020.00075
By:
- Lichtig, Hava;
- Artamonov, Artyom;
- Polevoy, Hanna;
- Reid, Christine D.;
- Bielas, Stephanie L.;
- Frank, Dale
Publication type:
Article
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172
By:
- Kausthubham, Neethukrishna;
- Shukla, Anju;
- Gupta, Neerja;
- Bhavani, Gandham S.;
- Kulshrestha, Samarth;
- Das Bhowmik, Aneek;
- Moirangthem, Amita;
- Bijarnia‐Mahay, Sunita;
- Kabra, Madhulika;
- Puri, Ratna D.;
- Mandal, Kausik;
- Verma, Ishwar C.;
- Bielas, Stephanie L.;
- Phadke, Shubha R.;
- Dalal, Ashwin;
- Girisha, Katta M.
Publication type:
Article
Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.
Published in:
Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
By:
- Jordan, Valerie K.;
- Fregeau, Brieana;
- Ge, Xiaoyan;
- Giordano, Jessica;
- Wapner, Ronald J.;
- Balci, Tugce B.;
- Carter, Melissa T.;
- Bernat, John A.;
- Moccia, Amanda N.;
- Srivastava, Anshika;
- Martin, Donna M.;
- Bielas, Stephanie L.;
- Pappas, John;
- Svoboda, Melissa D.;
- Rio, Marlène;
- Boddaert, Nathalie;
- Cantagrel, Vincent;
- Lewis, Andrea M.;
- Scaglia, Fernando;
- Undiagnosed Diseases Network
Publication type:
Article

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