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Items: 46

1.

Physiological consequences of transient hyperleptinemia during discrete developmental periods on body weight in mice.

Skowronski AA, LeDuc CA, Foo KS, Goffer Y, Burnett LC, Egli D, Leibel RL.

Sci Transl Med. 2020 Jan 1;12(524). pii: eaax6629. doi: 10.1126/scitranslmed.aax6629.

PMID:
31894105
2.

Auto-Regulation of Leptin Neurobiology.

LeDuc CA, Leibel RL.

Cell Metab. 2019 Oct 1;30(4):614-616. doi: 10.1016/j.cmet.2019.09.006.

PMID:
31577926
3.

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Okur V, LeDuc CA, Guzman E, Valivullah ZM, Anyane-Yeboa K, Chung WK.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a004101. doi: 10.1101/mcs.a004101. Print 2019 Jun.

4.

Transgenic substitution with Greater Amberjack Seriola dumerili fish insulin 2 in NOD mice reduces beta cell immunogenicity.

Foo KS, Skowronski AA, Baum D, Firdessa-Fite R, Thams S, Shang L, Creusot RJ, LeDuc CA, Egli D, Leibel RL.

Sci Rep. 2019 Mar 21;9(1):4965. doi: 10.1038/s41598-019-40768-3.

5.

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK.

Am J Hum Genet. 2019 Feb 7;104(2):287-298. doi: 10.1016/j.ajhg.2018.12.017. Epub 2019 Jan 17.

6.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P.

Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006.

7.

Evidence for a Non-leptin System that Defends against Weight Gain in Overfeeding.

Ravussin Y, Edwin E, Gallop M, Xu L, Bartolomé A, Kraakman MJ, LeDuc CA, Ferrante AW Jr.

Cell Metab. 2018 Aug 7;28(2):289-299.e5. doi: 10.1016/j.cmet.2018.05.029. Epub 2018 Jun 21.

8.

FTO mediates cell-autonomous effects on adipogenesis and adipocyte lipid content by regulating gene expression via 6mA DNA modifications.

Martin Carli JF, LeDuc CA, Zhang Y, Stratigopoulos G, Leibel RL.

J Lipid Res. 2018 Aug;59(8):1446-1460. doi: 10.1194/jlr.M085555. Epub 2018 Jun 22.

9.

DMSO increases efficiency of genome editing at two non-coding loci.

Stratigopoulos G, De Rosa MC, LeDuc CA, Leibel RL, Doege CA.

PLoS One. 2018 Jun 4;13(6):e0198637. doi: 10.1371/journal.pone.0198637. eCollection 2018.

10.

ILDR2 has a negligible role in hepatic steatosis.

Millings EJ, De Rosa MC, Fleet S, Watanabe K, Rausch R, Egli D, Li G, Leduc CA, Zhang Y, Fischer SG, Leibel RL.

PLoS One. 2018 May 30;13(5):e0197548. doi: 10.1371/journal.pone.0197548. eCollection 2018.

11.

The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.

Carli JFM, LeDuc CA, Zhang Y, Stratigopoulos G, Leibel RL.

FASEB J. 2018 Jul;32(7):3946-3956. doi: 10.1096/fj.201701216R. Epub 2018 Feb 21.

12.

Energy homeostasis in leptin deficient Lepob/ob mice.

Skowronski AA, Ravussin Y, Leibel RL, LeDuc CA.

PLoS One. 2017 Dec 20;12(12):e0189784. doi: 10.1371/journal.pone.0189784. eCollection 2017.

13.

Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.

Burnett LC, Hubner G, LeDuc CA, Morabito MV, Carli JFM, Leibel RL.

Hum Mol Genet. 2017 Dec 1;26(23):4606-4616. doi: 10.1093/hmg/ddx342.

14.

Weight Perturbation Alters Leptin Signal Transduction in a Region-Specific Manner throughout the Brain.

Morabito MV, Ravussin Y, Mueller BR, Skowronski AA, Watanabe K, Foo KS, Lee SX, Lehmann A, Hjorth S, Zeltser LM, LeDuc CA, Leibel RL.

PLoS One. 2017 Jan 20;12(1):e0168226. doi: 10.1371/journal.pone.0168226. eCollection 2017.

15.

Determination of the half-life of circulating leptin in the mouse.

Burnett LC, Skowronski AA, Rausch R, LeDuc CA, Leibel RL.

Int J Obes (Lond). 2017 Mar;41(3):355-359. doi: 10.1038/ijo.2016.238. Epub 2016 Dec 27.

16.

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.

Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, Carli JF, Morabito MV, Skowronski AA, Hubner G, Zimmer M, Wang L, Day R, Levy B, Fennoy I, Dubern B, Poitou C, Clement K, Butler MG, Rosenbaum M, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL.

J Clin Invest. 2017 Jan 3;127(1):293-305. doi: 10.1172/JCI88648. Epub 2016 Dec 12.

17.

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.

Burnett LC, LeDuc CA, Sulsona CR, Paull D, Eddiry S, Levy B, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL.

Stem Cell Res. 2016 Nov;17(3):526-530. doi: 10.1016/j.scr.2016.08.008. Epub 2016 Aug 16.

18.

ZNF70, a novel ILDR2-interacting protein, contributes to the regulation of HES1 gene expression.

Watanabe K, Nakayama K, Ohta S, Tago K, Boonvisut S, Millings EJ, Fischer SG, LeDuc CA, Leibel RL, Iwamoto S.

Biochem Biophys Res Commun. 2016 Sep 2;477(4):712-716. doi: 10.1016/j.bbrc.2016.06.124. Epub 2016 Jun 25.

PMID:
27353377
19.

Hypomorphism of Fto and Rpgrip1l causes obesity in mice.

Stratigopoulos G, Burnett LC, Rausch R, Gill R, Penn DB, Skowronski AA, LeDuc CA, Lanzano AJ, Zhang P, Storm DR, Egli D, Leibel RL.

J Clin Invest. 2016 May 2;126(5):1897-910. doi: 10.1172/JCI85526. Epub 2016 Apr 11.

20.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR.

Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011.

21.

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.

Kilpeläinen TO, Carli JF, Skowronski AA, Sun Q, Kriebel J, Feitosa MF, Hedman ÅK, Drong AW, Hayes JE, Zhao J, Pers TH, Schick U, Grarup N, Kutalik Z, Trompet S, Mangino M, Kristiansson K, Beekman M, Lyytikäinen LP, Eriksson J, Henneman P, Lahti J, Tanaka T, Luan J, Del Greco M F, Pasko D, Renström F, Willems SM, Mahajan A, Rose LM, Guo X, Liu Y, Kleber ME, Pérusse L, Gaunt T, Ahluwalia TS, Ju Sung Y, Ramos YF, Amin N, Amuzu A, Barroso I, Bellis C, Blangero J, Buckley BM, Böhringer S, I Chen YD, de Craen AJ, Crosslin DR, Dale CE, Dastani Z, Day FR, Deelen J, Delgado GE, Demirkan A, Finucane FM, Ford I, Garcia ME, Gieger C, Gustafsson S, Hallmans G, Hankinson SE, Havulinna AS, Herder C, Hernandez D, Hicks AA, Hunter DJ, Illig T, Ingelsson E, Ioan-Facsinay A, Jansson JO, Jenny NS, Jørgensen ME, Jørgensen T, Karlsson M, Koenig W, Kraft P, Kwekkeboom J, Laatikainen T, Ladwig KH, LeDuc CA, Lowe G, Lu Y, Marques-Vidal P, Meisinger C, Menni C, Morris AP, Myers RH, Männistö S, Nalls MA, Paternoster L, Peters A, Pradhan AD, Rankinen T, Rasmussen-Torvik LJ, Rathmann W, Rice TK, Brent Richards J, Ridker PM, Sattar N, Savage DB, Söderberg S, Timpson NJ, Vandenput L, van Heemst D, Uh HW, Vohl MC, Walker M, Wichmann HE, Widén E, Wood AR, Yao J, Zeller T, Zhang Y, Meulenbelt I, Kloppenburg M, Astrup A, Sørensen TI, Sarzynski MA, Rao DC, Jousilahti P, Vartiainen E, Hofman A, Rivadeneira F, Uitterlinden AG, Kajantie E, Osmond C, Palotie A, Eriksson JG, Heliövaara M, Knekt PB, Koskinen S, Jula A, Perola M, Huupponen RK, Viikari JS, Kähönen M, Lehtimäki T, Raitakari OT, Mellström D, Lorentzon M, Casas JP, Bandinelli S, März W, Isaacs A, van Dijk KW, van Duijn CM, Harris TB, Bouchard C, Allison MA, Chasman DI, Ohlsson C, Lind L, Scott RA, Langenberg C, Wareham NJ, Ferrucci L, Frayling TM, Pramstaller PP, Borecki IB, Waterworth DM, Bergmann S, Waeber G, Vollenweider P, Vestergaard H, Hansen T, Pedersen O, Hu FB, Eline Slagboom P, Grallert H, Spector TD, Jukema JW, Klein RJ, Schadt EE, Franks PW, Lindgren CM, Leibel RL, Loos RJ.

Nat Commun. 2016 Feb 1;7:10494. doi: 10.1038/ncomms10494.

22.

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, LeDuc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K.

Fetal Diagn Ther. 2015;38(4):296-306. doi: 10.1159/000381638. Epub 2015 May 13.

PMID:
25998219
23.

Differentiation of hypothalamic-like neurons from human pluripotent stem cells.

Wang L, Meece K, Williams DJ, Lo KA, Zimmer M, Heinrich G, Martin Carli J, Leduc CA, Sun L, Zeltser LM, Freeby M, Goland R, Tsang SH, Wardlaw SL, Egli D, Leibel RL.

J Clin Invest. 2015 Feb;125(2):796-808. doi: 10.1172/JCI79220. Epub 2015 Jan 2.

24.

Effects of chronic leptin infusion on subsequent body weight and composition in mice: Can body weight set point be reset?

Ravussin Y, LeDuc CA, Watanabe K, Mueller BR, Skowronski A, Rosenbaum M, Leibel RL.

Mol Metab. 2014 Mar 5;3(4):432-40. doi: 10.1016/j.molmet.2014.02.003. eCollection 2014 Jul.

25.

Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.

Stratigopoulos G, Martin Carli JF, O'Day DR, Wang L, Leduc CA, Lanzano P, Chung WK, Rosenbaum M, Egli D, Doherty DA, Leibel RL.

Cell Metab. 2014 May 6;19(5):767-79. doi: 10.1016/j.cmet.2014.04.009.

26.

Effects of a novel MC4R agonist on maintenance of reduced body weight in diet-induced obese mice.

Skowronski AA, Morabito MV, Mueller BR, Lee S, Hjorth S, Lehmann A, Watanabe K, Zeltser LM, Ravussin Y, Rosenbaum M, LeDuc CA, Leibel RL.

Obesity (Silver Spring). 2014 May;22(5):1287-95. doi: 10.1002/oby.20678. Epub 2014 Jan 9.

27.

Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

Leduc CA, Crouch EE, Wilson A, Lefkowitch J, Wamelink MM, Jakobs C, Salomons GS, Sun X, Shen Y, Chung WK.

JIMD Rep. 2014;12:121-7. doi: 10.1007/8904_2013_254. Epub 2013 Oct 6.

28.

Genetic loss of SH2B3 in acute lymphoblastic leukemia.

Perez-Garcia A, Ambesi-Impiombato A, Hadler M, Rigo I, LeDuc CA, Kelly K, Jalas C, Paietta E, Racevskis J, Rowe JM, Tallman MS, Paganin M, Basso G, Tong W, Chung WK, Ferrando AA.

Blood. 2013 Oct 3;122(14):2425-32. doi: 10.1182/blood-2013-05-500850. Epub 2013 Aug 1.

29.

ILDR2: an endoplasmic reticulum resident molecule mediating hepatic lipid homeostasis.

Watanabe K, Watson E, Cremona ML, Millings EJ, Lefkowitch JH, Fischer SG, LeDuc CA, Leibel RL.

PLoS One. 2013 Jun 24;8(6):e67234. doi: 10.1371/journal.pone.0067234. Print 2013.

30.

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N.

Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23.

31.

De novo copy number variants are associated with congenital diaphragmatic hernia.

Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK.

J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.

32.

Effects of ambient temperature on adaptive thermogenesis during maintenance of reduced body weight in mice.

Ravussin Y, LeDuc CA, Watanabe K, Leibel RL.

Am J Physiol Regul Integr Comp Physiol. 2012 Aug 15;303(4):R438-48. doi: 10.1152/ajpregu.00092.2012. Epub 2012 Jul 3.

33.

Estimating energy expenditure in mice using an energy balance technique.

Ravussin Y, Gutman R, LeDuc CA, Leibel RL.

Int J Obes (Lond). 2013 Mar;37(3):399-403. doi: 10.1038/ijo.2012.105. Epub 2012 Jul 3. Erratum in: Int J Obes (Lond).2013 Mar;37(3):473.

34.

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.

Imundo L, Leduc CA, Guha S, Brown M, Perino G, Gushulak L, Triggs-Raine B, Chung WK.

J Inherit Metab Dis. 2011 Oct;34(5):1013-22. doi: 10.1007/s10545-011-9343-3. Epub 2011 May 11.

PMID:
21559944
35.

Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome.

Brenner L, Burke K, Leduc CA, Guha S, Guo J, Chung WK.

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):525-9. doi: 10.1089/gtmb.2010.0277. Epub 2011 Mar 27.

PMID:
21438779
36.

Effects of chronic weight perturbation on energy homeostasis and brain structure in mice.

Ravussin Y, Gutman R, Diano S, Shanabrough M, Borok E, Sarman B, Lehmann A, LeDuc CA, Rosenbaum M, Horvath TL, Leibel RL.

Am J Physiol Regul Integr Comp Physiol. 2011 Jun;300(6):R1352-62. doi: 10.1152/ajpregu.00429.2010. Epub 2011 Mar 16.

37.

A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children.

Duggal P, Guo X, Haque R, Peterson KM, Ricklefs S, Mondal D, Alam F, Noor Z, Verkerke HP, Marie C, Leduc CA, Chua SC Jr, Myers MG Jr, Leibel RL, Houpt E, Gilchrist CA, Sher A, Porcella SF, Petri WA Jr.

J Clin Invest. 2011 Mar;121(3):1191-8. doi: 10.1172/JCI45294.

38.
39.

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Chang W, Winder TL, LeDuc CA, Simpson LL, Millar WS, Dungan J, Ginsberg N, Plaga S, Moore SA, Chung WK.

Prenat Diagn. 2009 Jun;29(6):560-9. doi: 10.1002/pd.2238. Erratum in: Prenat Diagn. 2012 Oct;32(10):1019.

40.

Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2.

Chung WK, Shin M, Jaramillo TC, Leibel RL, LeDuc CA, Fischer SG, Tzilianos E, Gheith AA, Lewis AS, Chetkovich DM.

Neurobiol Dis. 2009 Mar;33(3):499-508. doi: 10.1016/j.nbd.2008.12.004. Epub 2008 Dec 25.

41.
42.

Functional consequences of the human leptin receptor (LEPR) Q223R transversion.

Stratigopoulos G, LeDuc CA, Matsuoka N, Gutman R, Rausch R, Robertson SA, Myers MG Jr, Chung WK, Chua SC Jr, Leibel RL.

Obesity (Silver Spring). 2009 Jan;17(1):126-35. doi: 10.1038/oby.2008.489. Epub 2008 Nov 6.

43.

Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis.

Tefferi A, Sirhan S, Sun Y, Lasho T, Finke CM, Weisberger J, Bale S, Compton J, LeDuc CA, Pardanani A, Thorland EC, Shevchenko Y, Grodman M, Chung WK.

Leuk Res. 2009 May;33(5):662-4. doi: 10.1016/j.leukres.2008.09.009. Epub 2008 Oct 19.

PMID:
18937974
44.

Regulation of Fto/Ftm gene expression in mice and humans.

Stratigopoulos G, Padilla SL, LeDuc CA, Watson E, Hattersley AT, McCarthy MI, Zeltser LM, Chung WK, Leibel RL.

Am J Physiol Regul Integr Comp Physiol. 2008 Apr;294(4):R1185-96. doi: 10.1152/ajpregu.00839.2007. Epub 2008 Feb 6. Erratum in: Am J Physiol Regul Integr Comp Physiol. 2008 Oct;295(4):R1360-3.

45.

The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein.

Phan LK, Lin F, LeDuc CA, Chung WK, Leibel RL.

J Clin Invest. 2002 Nov;110(10):1449-59.

46.

An approach to high-throughput genotyping.

Hall JM, LeDuc CA, Watson AR, Roter AH.

Genome Res. 1996 Sep;6(9):781-90. Review. No abstract available.

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