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JIMMY LLOYD HOLDER JR

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
DivisionPediatrics-Neurology
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    Other Positions
    TitleAssistant Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Neurology
    DivisionNeurology


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    Collapse Biography 
    Collapse awards and honors
    2015 - 2017Philip R. Dodge Young Investigator Award, Child Neurology Society
    2013 - 2014Chao Physician Scientist Award, Baylor College of Medicine
    2014 - 2016Pediatrics Pilot Award, Baylor College of Medicine
    2015 - 2016Junior Faculty Seed Award, Baylor College of Medicine

    Collapse Overview 
    Collapse overview
    Neurodevelopmental and neuropsychiatric disorders have strong genetic components. Yet we are still in infancy of our understanding of these genetic determinants and how they cause neurological disorders. Many of the genes responsible for neurodevelopmental and neuropsychiatric disease encode synaptic proteins that are critical for neuronal communication. Taking both clinical and basic science approaches, I aim to investigate how genetic and genomic abnormalities cause neuronal dysfunction in human neurological disease.

    Collapse Research 
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    K08NS091381     (HOLDER, JIMMY L)Sep 1, 2015 - Aug 31, 2020
    NIH/NINDS
    RESCUING MOTOR DEFICITS IN SHANK3 RELEATED DISORDERS
    Role: Principal Investigator

    R13NS098727     (RUMBAUGH, GAVIN R)Aug 1, 2016 - Jul 31, 2017
    NIH/NINDS
    1st International SYNGAP1 Conference
    Role: Co-Principal Investigator

    R13NS108694     (HOLDER, JIMMY L)Jul 1, 2018 - Jun 30, 2019
    NIH/NINDS
    Second International SYNGAP1 Symposium
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Creson TK, Rojas C, Hwaun E, Vaissiere T, Kilinc M, Jimenez-Gomez A, Holder JL, Tang J, Colgin LL, Miller CA, Rumbaugh G. Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior. Elife. 2019 Apr 26; 8. PMID: 31025938.
      View in: PubMed
    2. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12. PMID: 30819258.
      View in: PubMed
    3. Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL, Zoghbi HY. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2019 Jan 29. PMID: 30696942.
      View in: PubMed
    4. Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL, Zoghbi HY. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2019 Jan 04. PMID: 30610205.
      View in: PubMed
    5. Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL, Miller CA, Rumbaugh G. SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits. Nat Neurosci. 2018 12; 21(12):1-13. PMID: 30455457.
      View in: PubMed
    6. Xing Y, Holder JL, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L. Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018 08; 298(2):289-295. PMID: 29808250.
      View in: PubMed
    7. De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL, Betancur C, Buxbaum JD, Kolevzon A. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018; 9:31. PMID: 29719671.
      View in: PubMed
    8. Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL, Zoghbi HY. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11. PMID: 29474920.
      View in: PubMed
    9. Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL, Bi W. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. Am J Med Genet A. 2018 04; 176(4):973-979. PMID: 29423971.
      View in: PubMed
    10. Weldon M, Kilinc M, Lloyd Holder J, Rumbaugh G. The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators. J Neurodev Disord. 2018 02 05; 10(1):6. PMID: 29402231.
      View in: PubMed
    11. Lyons-Warren AM, Cheung SW, Holder JL. Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. Neurology. 2017 10 24; 89(17):e205-e209. PMID: 29061681.
      View in: PubMed
    12. Holder JL, Quach MM. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. Epilepsia. 2016 Oct; 57(10):1651-1659. PMID: 27554343.
      View in: PubMed
    13. Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology. 2016 07 05; 87(1):77-85. PMID: 27281533.
      View in: PubMed
    14. Cardon M, Evankovich KD, Holder JL. Exonic deletion of SLC9A9 in autism with epilepsy. Neurol Genet. 2016 Apr; 2(2):e62. PMID: 27123481.
      View in: PubMed
    15. Holder JL, Lotze TE, Bacino C, Cheung SW. A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1962-6. PMID: 22488736.
      View in: PubMed
    16. He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH. The transcriptional repressor DEC2 regulates sleep length in mammals. Science. 2009 Aug 14; 325(5942):866-70. PMID: 19679812.
      View in: PubMed
    17. Kublaoui BM, Holder JL, Gemelli T, Zinn AR. Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons. Mol Endocrinol. 2006 Oct; 20(10):2483-92. PMID: 16728530.
      View in: PubMed
    18. Kublaoui BM, Holder JL, Tolson KP, Gemelli T, Zinn AR. SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. Endocrinology. 2006 Oct; 147(10):4542-9. PMID: 16709610.
      View in: PubMed
    19. Holder JL, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn AR. Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice. Am J Physiol Endocrinol Metab. 2004 Jul; 287(1):E105-13. PMID: 14982752.
      View in: PubMed
    20. Holder JL, Butte NF, Zinn AR. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet. 2000 Jan 01; 9(1):101-8. PMID: 10587584.
      View in: PubMed
    21. Holder JL, Habbak RA, Pearlson GD, Aylward EA, Pulsifer M, Warren AC. Reduced survival of apolipoprotein E4 homozygotes in Down's syndrome? Neuroreport. 1996 Nov 04; 7(15-17):2455-6. PMID: 8981402.
      View in: PubMed
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