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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 Apr 7; 109 (4):601-617 View PubMed Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022; 10:783762 Epub 2022 Feb 28 View PubMed Johnson SA, Shouman K, Shelly S, Sandroni P, Berini SE, Dyck PJB, Hoffman EM, Mandrekar J, Niu Z, Lamb CJ, Low PA, Singer W, Mauermann ML, Mills J, Dubey D, Staff NP, Klein CJ. Small Fiber Neuropathy Incidence, Prevalence, Longitudinal Impairments, and Disability. 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Cold Spring Harb Mol Case Stud. 2019 Apr; 5 (2) Epub 2019 Apr 01 View PubMed Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5 (2):e565 Epub 2019 Apr 18 View PubMed Mauermann ML, Niu Z, Renaud DL, Kemppainen JL, Schultz MJ, Klein CJ. Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance. Neuromuscul Disord. 2019 Feb; 29(2):146-149. Epub 2018 Nov 22. View PubMed Madigan NN, Tracy JA, Litchy WJ, Niu Z, Chen C, Ling K, Milone M. A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy. 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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. Front Neurol. 2018; 9:147 Epub 2018 Mar 19 View PubMed Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D. Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Cold Spring Harb Mol Case Stud. 2017 Nov; 3 (6) Epub 2017 Nov 21 View PubMed Laughlin RS, Niu Z, Wieben E, Milone M. RYR1 causing distal myopathy. Mol Genet Genomic Med. 2017 Nov; 5 (6):800-804 Epub 2017 Oct 04 View PubMed Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. Cold Spring Harb Mol Case Stud. 2017 May; 3 (3):a001743 View PubMed Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173: (2)460-470. View PubMed Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 Aug; 170: (8)2206-11. View PubMed Coon EA, Ahlskog JE, Patterson MC, Niu Z, Milone M. Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic Dysfunction. JAMA Neurol. 2016 Feb; 73 (2):237-8 View PubMed White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 6; 8 (1):3 Epub 2016 Jan 06 View PubMed Niu Z, Goodyear SM, Avarbock MR, Brinster RL. Chemokine (C-X-C) Ligand 12 Facilitates Trafficking of Donor Spermatogonial Stem Cells. 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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat. 2013 Feb; 34(2):385-94. Epub 2012 Dec 12. View PubMed Niu Z, Goodyear SM, Rao S, Wu X, Tobias JW, Avarbock MR, Brinster RL. MicroRNA-21 regulates the self-renewal of mouse spermatogonial stem cells. Proc Natl Acad Sci U S A. 2011 Aug 2; 108(31):12740-5. Epub 2011 Jul 18. View PubMed Schmidt JA, Abramowitz LK, Kubota H, Wu X, Niu Z, Avarbock MR, Tobias JW, Bartolomei MS, Brinster RL. In vivo and in vitro aging is detrimental to mouse spermatogonial stem cell function. Biol Reprod. 2011 Apr; 84(4):698-706. Epub 2010 Dec 29. View PubMed Li D, Niu Z, Yu W, Qian Y, Wang Q, Li Q, Yi Z, Luo J, Wu X, Wang Y, Schwartz RJ, Liu M. SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin. Nucleic Acids Res. 2009 Nov; 37(21):7059-71. View PubMed Niu Z, Iyer D, Conway SJ, Martin JF, Ivey K, Srivastava D, Nordheim A, Schwartz RJ. Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart. Proc Natl Acad Sci U S A. 2008 Nov 18; 105(46):17824-9. Epub 2008 Nov 12. View PubMed Niu Z, Li A, Zhang SX, Schwartz RJ. Serum response factor micromanaging cardiogenesis. Curr Opin Cell Biol. 2007 Dec; 19(6):618-27. Epub 2007 Nov 26. View PubMed Liu Y, Asakura M, Inoue H, Nakamura T, Sano M, Niu Z, Chen M, Schwartz RJ, Schneider MD. Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells. Proc Natl Acad Sci U S A. 2007 Mar 6; 104(10):3859-64. Epub 2007 Feb 28. View PubMed Niu Z, Yu W, Zhang SX, Barron M, Belaguli NS, Schneider MD, Parmacek M, Nordheim A, Schwartz RJ. Conditional mutagenesis of the murine serum response factor gene blocks cardiogenesis and the transcription of downstream gene targets. J Biol Chem. 2005 Sep 16; 280(37):32531-8. Epub 2005 May 31. View PubMed Zhang D, Niu Z, Wan Q, Zhao BL. Stability and reaction of the dithiocarbamate-ferrous-NO complex in PMA-stimulated peritoneal macrophages. Research on Chemical Intermediates. 2003; 29:201-12. PST-20514769 الصفحة الرئيسية المنشورات