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SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin.
Published in:
Nucleic Acids Research, 2009, v. 37, n. 21, p. 7059
By:
- Li, Dali;
- Niu, Zhiyv;
- Yu, Weishi;
- Qian, Yu;
- Wang, Qian;
- Li, Qiang;
- Yi, Zhengfang;
- Luo, Jian;
- Wu, Xiushan;
- Wang, Yuequn;
- Schwartz, Robert J.;
- Liu, Mingyao
Publication type:
Article
Stability and reaction of the dithiocarbamate-ferrous-NO complex in PMA-stimulated peritoneal macrophages.
Published in:
Research on Chemical Intermediates, 2003, v. 29, n. 2, p. 201, doi. 10.1163/156856703321505094
By:
- Zhang, Deliang;
- Niu, Zhiyv;
- Wan, Qian;
- Zhao, Baolu
Publication type:
Article
Chemokine (C-X-C) Ligand 12 Facilitates Trafficking of Donor Spermatogonial Stem Cells.
Published in:
Thrombosis, 2016, p. 1, doi. 10.1155/2016/5796305
By:
- Niu, Zhiyv;
- Goodyear, Shaun M.;
- Avarbock, Mary R.;
- Brinster, Ralph L.
Publication type:
Article
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2272, doi. 10.1002/ajmg.a.61338
By:
- Karolak, Justyna A.;
- Bacolla, Albino;
- Liu, Qian;
- Lantz, Patrick E.;
- Petty, John;
- Trapane, Pamela;
- Panzer, Karin;
- Totapally, Balagangadhar R.;
- Niu, Zhiyv;
- Xiao, Rui;
- Xie, Nina G.;
- Wu, Lucia R.;
- Szafranski, Przemyslaw;
- Zhang, David Y.;
- Stankiewicz, Paweł
Publication type:
Article
Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2).
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2798, doi. 10.1002/ajmg.a.40498
By:
- Boczek, Nicole J.;
- Lahner, Carrie A.;
- Nguyen, Thuy‐mi;
- Ferber, Matthew J.;
- Hasadsri, Linda;
- Thorland, Erik C.;
- Niu, Zhiyv;
- Gavrilova, Ralitza H.
Publication type:
Article
Homozygous variants in pyrroline-5-carboxylate reductase 2 ( PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 460, doi. 10.1002/ajmg.a.38049
By:
- Meng, Linyan;
- Donti, Taraka;
- Xia, Fan;
- Niu, Zhiyv;
- Al Shamsi, Aisha;
- Hertecant, Jozef;
- Al‐Jasmi, Fatma;
- Gibson, James B.;
- Nagakura, Honey;
- Zhang, Jing;
- He, Weimin;
- Eng, Christine;
- Yang, Yaping;
- Elsea, Sarah H.
Publication type:
Article
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2206, doi. 10.1002/ajmg.a.37780
By:
- Leduc, Magalie S.;
- Niu, Zhiyv;
- Bi, Weimin;
- Zhu, Wenmiao;
- Miloslavskaya, Irene;
- Chiang, Theodore;
- Streff, Haley;
- Seavitt, John R.;
- Murray, Stephen A.;
- Eng, Christine;
- Chan, Audrey;
- Yang, Yaping;
- Lalani, Seema R.
Publication type:
Article
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3182, doi. 10.1002/ajmg.a.36178
By:
- Vatta, Matteo;
- Niu, Zhiyv;
- Lupski, James R.;
- Putnam, Philip;
- Spoonamore, Katherine G.;
- Fang, Ping;
- Eng, Christine M.;
- Willis, Alecia S.
Publication type:
Article
Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.
Published in:
2022
By:
- Chompoopong, Pitcha;
- Niu, Zhiyv;
- Shouman, Kamal;
- Madigan, Nicolas N.;
- Sandroni, Paola;
- Berini, Sarah E.;
- Shin, Alexander Y.;
- Brault, Jeffrey S.;
- Boon, Andrea J.;
- Laughlin, Ruple S.;
- Thorland, Erik;
- Mandrekar, Jay;
- Klein, Christopher J.
Publication type:
journal article
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Published in:
2018
By:
- Martinez‐Thompson, Jennifer M.;
- Niu, Zhiyv;
- Tracy, Jennifer A.;
- Moore, Steven A.;
- Swenson, Andrea;
- Wieben, Eric D.;
- Milone, Margherita;
- Martinez-Thompson, Jennifer M
Publication type:
journal article
Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
Published in:
Journal of Applied Laboratory Medicine, 2020, v. 5, n. 3, p. 467, doi. 10.1093/jalm/jfaa021
By:
- Butz, Malinda;
- McDonald, Amber;
- Lundquist, Patrick A.;
- Meyer, Melanie;
- Harrington, Sean;
- Kester, Sarah;
- Stein, Mariam I.;
- Mistry, Nipun A.;
- Zuckerman, Eric Zimmerman;
- Niu, Zhiyv;
- Schimmenti, Lisa;
- Hasadsri, Linda;
- Boczek, Nicole J.
Publication type:
Article
Expanding Phenotypic Spectrum of NKX2-1--Related Disorders--Mitochondrial and Immunologic Dysfunction.
Published in:
JAMA Neurology, 2016, v. 73, n. 2, p. 237, doi. 10.1001/jamaneurol.2015.2976
By:
- Coon, Elizabeth A.;
- Ahlskog, J. Eric;
- Patterson, Marc C.;
- Niu, Zhiyv;
- Milone, Margherita
Publication type:
Article
Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment.
Published in:
Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1251885
By:
- Nair, Malavika A.;
- Zhiyv Niu;
- Madigan, Nicholas N.;
- Shin, Alexander Y.;
- Brault, Jeffrey S.;
- Staff, Nathan P.;
- Klein, Christopher J.
Publication type:
Article
RYR1 causing distal myopathy.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 800, doi. 10.1002/mgg3.338
By:
- Laughlin, Ruple S.;
- Niu, Zhiyv;
- Wieben, Eric;
- Milone, Margherita
Publication type:
Article
Chemokine (C-X-C) Ligand 12 Facilitates Trafficking of Donor Spermatogonial Stem Cells.
Published in:
Stem Cells International, 2016, p. 1, doi. 10.1155/2016/5796305
By:
- Niu, Zhiyv;
- Goodyear, Shaun M.;
- Avarbock, Mary R.;
- Brinster, Ralph L.
Publication type:
Article
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.
Published in:
Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
By:
- Berryer, Martin H.;
- Hamdan, Fadi F.;
- Klitten, Laura L.;
- Møller, Rikke S.;
- Carmant, Lionel;
- Schwartzentruber, Jeremy;
- Patry, Lysanne;
- Dobrzeniecka, Sylvia;
- Rochefort, Daniel;
- Neugnot‐Cerioli, Mathilde;
- Lacaille, Jean‐Claude;
- Niu, Zhiyv;
- Eng, Christine M.;
- Yang, Yaping;
- Palardy, Sylvain;
- Belhumeur, Céline;
- Rouleau, Guy A.;
- Tommerup, Niels;
- Immken, LaDonna;
- Beauchamp, Miriam H.
Publication type:
Article
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
Published in:
JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
By:
- Yaping Yang;
- Muzny, Donna M.;
- Fan Xia;
- Zhiyv Niu;
- Person, Richard;
- Yan Ding;
- Ward, Patricia;
- Braxton, Alicia;
- Min Wang;
- Buhay, Christian;
- Veeraraghavan, Narayanan;
- Hawes, Alicia;
- Chiang, Theodore;
- Leduc, Magalie;
- Beuten, Joke;
- Jing Zhang;
- Weimin He;
- Scull, Jennifer;
- Willis, Alecia;
- Landsverk, Megan
Publication type:
Article
POGZ truncating alleles cause syndromic intellectual disability.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-015-0253-0
By:
- White, Janson;
- Beck, Christine R.;
- Harel, Tamar;
- Posey, Jennifer E.;
- Jhangiani, Shalini N.;
- Sha Tang;
- Farwell, Kelly D.;
- Powis, Zöe;
- Mendelsohn, Nancy J.;
- Baker, Janice A.;
- Pollack, Lynda;
- Mason, Kati J.;
- Wierenga, Klaas J.;
- Arrington, Daniel K.;
- Hall, Melissa;
- Psychogios, Apostolos;
- Fairbrother, Laura;
- Walkiewicz, Magdalena;
- Person, Richard E.;
- Zhiyv Niu
Publication type:
Article
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.
Published in:
NPJ Regenerative Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41536-022-00238-3
By:
- Schmitt, Rebecca E.;
- Smith IV, Douglas Y.;
- Cho, Dong Seong;
- Kirkeby, Lindsey A.;
- Resch, Zachary T.;
- Liewluck, Teerin;
- Niu, Zhiyv;
- Milone, Margherita;
- Doles, Jason D.
Publication type:
Article
Myopathy With SQSTM1 and TIA1 Variants: clinical and Pathological Features.
Published in:
Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00147
By:
- Niu, Zhiyv;
- Pontifex, Carly Sabine;
- Berini, Sarah;
- Hamilton, Leslie E.;
- Naddaf, Elie;
- Wieben, Eric;
- Aleff, Ross A.;
- Martens, Kristina;
- Gruber, Angela;
- Engel, Andrew G.;
- Pfeffer, Gerald;
- Milone, Margherita
Publication type:
Article

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