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Items: 1 to 20 of 70

1.

Impaired cardiac performance, protein synthesis, and mitochondrial function in tumor-bearing mice.

Berent TE, Dorschner JM, Meyer T, Craig TA, Wang X, Kunz H, Jatoi A, Lanza IR, Chen H, Kumar R.

PLoS One. 2019 Dec 18;14(12):e0226440. doi: 10.1371/journal.pone.0226440. eCollection 2019.

2.

High fat diet consumption results in mitochondrial dysfunction, oxidative stress, and oligodendrocyte loss in the central nervous system.

Langley MR, Yoon H, Kim HN, Choi CI, Simon W, Kleppe L, Lanza IR, LeBrasseur NK, Matveyenko A, Scarisbrick IA.

Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165630. doi: 10.1016/j.bbadis.2019.165630. Epub 2019 Dec 6.

PMID:
31816440
3.

VarSight: prioritizing clinically reported variants with binary classification algorithms.

Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network, Worthey EA.

BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8.

4.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

PMID:
31585109
5.

Attenuated activation of the unfolded protein response following exercise in skeletal muscle of older adults.

Hart CR, Ryan ZC, Pfaffenbach KT, Dasari S, Parvizi M, Lalia AZ, Lanza IR.

Aging (Albany NY). 2019 Sep 14;11(18):7587-7604. doi: 10.18632/aging.102273. Epub 2019 Sep 14.

6.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

7.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29.

PMID:
31443933
8.

Genomics in medicine: a novel elective rotation for internal medicine residents.

Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M.

Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22.

PMID:
31439813
9.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

PMID:
31327508
10.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN), Moore SA, Hamid R; Members of the Undiagnosed Diseases Network.

Clin Imaging. 2019 Nov - Dec;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. Epub 2019 Jun 21.

11.

EPA and DHA elicit distinct transcriptional responses to high-fat feeding in skeletal muscle and liver.

Kunz HE, Dasari S, Lanza IR.

Am J Physiol Endocrinol Metab. 2019 Sep 1;317(3):E460-E472. doi: 10.1152/ajpendo.00083.2019. Epub 2019 Jul 2.

PMID:
31265326
12.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A.

Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.

PMID:
31264822
13.

Distinct influence of omega-3 fatty acids on the plasma metabolome of healthy older adults.

Xyda SE, Vuckovic I, Petterson XM, Dasari S, Lalia AZ, Parvizi M, Macura SI, Lanza IR.

J Gerontol A Biol Sci Med Sci. 2019 Jun 4. pii: glz141. doi: 10.1093/gerona/glz141. [Epub ahead of print]

PMID:
31168623
14.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV.

Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.

15.

A comprehensive protocol for multiplatform metabolomics analysis in patient-derived skin fibroblasts.

Wilkins J, Sakrikar D, Petterson XM, Lanza IR, Trushina E.

Metabolomics. 2019 May 23;15(6):83. doi: 10.1007/s11306-019-1544-z.

PMID:
31123906
16.

TFAM Enhances Fat Oxidation and Attenuates High-Fat Diet-Induced Insulin Resistance in Skeletal Muscle.

Koh JH, Johnson ML, Dasari S, LeBrasseur NK, Vuckovic I, Henderson GC, Cooper SA, Manjunatha S, Ruegsegger GN, Shulman GI, Lanza IR, Nair KS.

Diabetes. 2019 Aug;68(8):1552-1564. doi: 10.2337/db19-0088. Epub 2019 May 14.

PMID:
31088855
17.

Insulin deficiency and intranasal insulin alter brain mitochondrial function: a potential factor for dementia in diabetes.

Ruegsegger GN, Manjunatha S, Summer P, Gopala S, Zabeilski P, Dasari S, Vanderboom PM, Lanza IR, Klaus KA, Nair KS.

FASEB J. 2019 Mar;33(3):4458-4472. doi: 10.1096/fj.201802043R. Epub 2019 Jan 24.

PMID:
30676773
18.

Mitochondrial ADP Sensitivity and Transport: New Insights Into Diet-Induced Mitochondrial Impairments.

Hart CR, Lanza IR.

Diabetes. 2018 Nov;67(11):2152-2153. doi: 10.2337/dbi18-0030. No abstract available.

19.

Hyperglucagonemia Mitigates the Effect of Metformin on Glucose Production in Prediabetes.

Konopka AR, Esponda RR, Robinson MM, Johnson ML, Carter RE, Schiavon M, Cobelli C, Wondisford FE, Lanza IR, Nair KS.

Cell Rep. 2018 May 22;23(8):2532. doi: 10.1016/j.celrep.2018.05.027. No abstract available.

20.

Urinary Metabolites Associated with Blood Pressure on a Low- or High-Sodium Diet.

Cheng Y, Song H, Pan X, Xue H, Wan Y, Wang T, Tian Z, Hou E, Lanza IR, Liu P, Liu Y, Laud PW, Usa K, He Y, Liang M.

Theranostics. 2018 Feb 5;8(6):1468-1480. doi: 10.7150/thno.22018. eCollection 2018.

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