Published Work

References and Links to Papers

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

Körner MB, Velluva A, Bundalian L, Radtke M, Lin CC, Zacher P, Bartolomaeus T, Kirstein AS, Mrestani A, Scholz N, Platzer K, Teichmann AC, Hentschel J, Langenhan T, Lemke JR, Garten A, Abou Jamra R, Le Duc D. Sci Rep. 2022 Aug 5;12(1):13507. doi: 10.1038/s41598-022-17604-2. PMID: 35931711

Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells

Nebe M, Kehr S, Schmitz S, Breitfeld J, Lorenz J, Le Duc D, Stadler PF, Meiler J, Kiess W, Garten A, Kirstein AS. Biochem Biophys Res Commun. 2022 May 14;604:57-62. doi: 10.1016/j.bbrc.2022.03.014. Epub 2022 Mar 4. PMID: 35290761

Genomic basis for skin phenotype and cold adaptation in the extinct Steller's sea cow

Le Duc D, Velluva A, Cassatt-Johnstone M, Olsen RA, Baleka S, Lin CC, Lemke JR, Southon JR, Burdin A, Wang MS, Grunewald S, Rosendahl W, Joger U, Rutschmann S, Hildebrandt TB, Fritsch G, Estes JA, Kelso J, Dalén L, Hofreiter M, Shapiro B, Schöneberg T. Sci Adv. 2022 Feb 4;8(5):eabl6496. doi: 10.1126/sciadv.abl6496. Epub 2022 Feb 4. PMID: 35119923

Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo D co-CRISPR selection with sgRNA target site masking

Götze KJ, Mrestani A, Beckmann P, Krohn K, Le Duc D, Velluva A, Böhme MA, Heckmann M, Abou Jamra R, Lemke JR, Bläker H, Scholz N, Ljaschenko D, Langenhan T. Biol Methods Protoc. 2022 Jan 12;7(1):bpac003. doi: 10.1093/biomethods/bpac003. eCollection 2022. PMID: 35087953 Free PMC article.

Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies

Velluva A, Radtke M, Horn S, Popp B, Platzer K, Gjermeni E, Lin CC, Lemke JR, Garten A, Schöneberg T, Blüher M, Abou Jamra R, Le Duc D. BMC Genomics. 2021 Nov 7;22(1):802. doi: 10.1186/s12864-021-08125-9. PMID: 34743696

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. PMID: 34697416 Free PMC article.

Obesity–An Update on the Basic Pathophysiology and Review of Recent Therapeutic Advances

Gjermeni E, Kirstein AS, Kolbig F, Kirchhof M, Bundalian L, Katzmann JL, Laufs U, Blüher M, Garten A, Le Duc D.

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK.

PTEN regulates adipose progenitor cell growth, differentiation, and replicative aging

Kirstein AS, Kehr S, Nebe M, Hanschkow M, Barth LAG, Lorenz J, Penke M, Breitfeld J, Le Duc D, Landgraf K, Körner A, Kovacs P, Stadler PF, Kiess W, Garten A.

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR.

Genet Med. 2021 Apr 28. doi: 10.1038/s41436-021-01153-6. Online ahead of print. PMID: 33911214

Ecological Specialisation and Evolutionary Reticulation in Extant Hyaenidae.

Westbury MV, Le Duc D, Duchêne DA, Krishnan A, Prost S, Rutschmann S, Grau JH, Dalen L, Weyrich A, Norén K, Werdelin L, Dalerum F, Schöneberg T, Hofreiter M.

Mol Biol Evol. 2021 Feb 24:msab055. doi: 10.1093/molbev/msab055. Online ahead of print. PMID: 33624822

Dendritic Cells Regulate GPR34 through Mitogenic Signals and Undergo Apoptosis in Its Absence

Jäger E, Schulz A, Lede V, Lin CC, Schöneberg T, Le Duc D.

J Immunol. 2016 Mar 15;196(6):2504-13. doi: 10.4049/jimmunol.1501326. Epub 2016 Feb 5. PMID: 26851221

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

Le Duc D, Hentschel J, Neuser S, Stiller M, Meier C, Jäger E, Abou Jamra R, Platzer K, Monecke A, Ziemer M, Markovic A, Bläker H, Lemke JR.

Eur J Hum Genet. 2021 Mar;29(3):489-494. doi: 10.1038/s41431-020-00781-x. Epub 2020 Dec 15. PMID: 33319852

Reduced lipolysis in lipoma phenocopies lipid accumulation in obesity.

Le Duc D, Lin CC, Popkova Y, Yang Z, Akhil V, Çakir MV, Grunewald S, Simon JC, Dietz A, Dannenberger D, Garten A, Lemke JR, Schiller J, Blüher M, Nono Nankam PA, Rolle-Kampczyk U, von Bergen M, Kelso J, Schöneberg T.

Int J Obes (Lond). 2021 Mar;45(3):565-576. doi: 10.1038/s41366-020-00716-y. Epub 2020 Nov 24. PMID: 33235355

Germline AGO2 mutations impair RNA interference and human neurological development

Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ.

Nat Commun. 2020 Nov 16;11(1):5797. doi: 10.1038/s41467-020-19572-5. PMID: 33199684

Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1

Münch J, Kirschner KM, Schlee H, Kraus C, Schönauer R, Jin W, Le Duc D, Scholz H, Halbritter J.

J Med Genet. 2020 May 7:jmedgenet-2019-106633. doi: 10.1136/jmedgenet-2019-106633. Online ahead of print. PMID: 32381729

Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration

Hornemann F, Le Duc D, Roth C, Pfäffle R, Huhle D, Merkenschlager A.

Neuropediatrics. 2020 Feb;51(1):22-29. doi: 10.1055/s-0039-1696688. Epub 2019 Sep 10. PMID: 31505688

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R.

Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. PMID: 31327001

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

Le Duc D, Horn S, Jamra RA, Schaper J, Wieczorek D, Redler S.

Eur J Med Genet. 2020 Feb;63(2):103649. doi: 10.1016/j.ejmg.2019.04.006. Epub 2019 Apr 12. PMID: 30986545

Ethanol exposed maturing rat cerebellar granule cells show impaired energy metabolism and increased cell death after oxygen-glucose deprivation

Spataru A, Le Duc D*, Zagrean L, Zagrean AM.

Neural Regen Res. 2019 Mar;14(3):485-490. doi: 10.4103/1673-5374.245474. PMID: 30539817

A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation

Rockstroh D, Pfäffle H, Le Duc D, Rößler F, Schlensog-Schuster F, Heiker JT, Kratzsch J, Kiess W, Lemke JR, Abou Jamra R, Pfäffle R.

Eur J Endocrinol. 2019 Jan 1;180(1):K1-K13. doi: 10.1530/EJE-18-0601. PMID: 30400067

Genomic insights into natural selection in the common loon (Gavia immer): evidence for aquatic adaptation

Gayk ZG, Le Duc D, Horn J, Lindsay AR.

BMC Evol Biol. 2018 Apr 27;18(1):64. doi: 10.1186/s12862-018-1181-6. PMID: 29703132

P2Y Receptors in Immune Response and Inflammation

Le Duc D, Schulz A, Lede V, Schulze A, Thor D, Brüser A, Schöneberg T.

Adv Immunol. 2017;136:85-121. doi: 10.1016/bs.ai.2017.05.006. Epub 2017 Jun 10. PMID: 28950952

Behavioral and molecular effects of prenatal continuous light exposure in the adult rat

Voiculescu SE, Le Duc D*, Roșca AE, Zeca V, Chiţimuș DM, Arsene AL, Drăgoi CM, Nicolae AC, Zăgrean L, Schöneberg T, Zăgrean AM.

Brain Res. 2016 Nov 1;1650:51-59. doi: 10.1016/j.brainres.2016.08.031. Epub 2016 Aug 24. PMID: 27566064

Adaptation to nocturnality - learning from avian genomes

Le Duc D, Schöneberg T.

Bioessays. 2016 Jul;38(7):694-703. doi: 10.1002/bies.201600006. Epub 2016 May 12. PMID: 27172298

Fetal alcohol spectrum disorder: molecular insights into neural damage reduction

Le Duc D.

Neural Regen Res. 2015 Nov;10(11):1764-6. doi: 10.4103/1673-5374.165290. PMID: 26807109

Kiwi genome provides insights into evolution of a nocturnal lifestyle

Le Duc D, Renaud G, Krishnan A, Almén MS, Huynen L, Prohaska SJ, Ongyerth M, Bitarello BD, Schiöth HB, Hofreiter M, Stadler PF, Prüfer K, Lambert D, Kelso J, Schöneberg T.

Genome Biol. 2015 Jul 23;16(1):147. doi: 10.1186/s13059-015-0711-4. PMID: 26201466

Developmental exposure to ethanol increases the neuronal vulnerability to oxygen-glucose deprivation in cerebellar granule cell cultures

Le Duc D, Spataru A, Ceanga M, Zagrean L, Schöneberg T, Toescu EC, Zagrean AM. Brain Res. 2015 Jul 21;1614:1-13. doi: 10.1016/j.brainres.2015.04.009. Epub 2015 Apr 13. PMID: 25881894

Altered microglial phagocytosis in GPR34-deficient mice

Preissler J, Grosche A, Lede V, Le Duc D, Krügel K, Matyash V, Szulzewsky F, Kallendrusch S, Immig K, Kettenmann H, Bechmann I, Schöneberg T, Schulz A. Glia. 2015 Feb;63(2):206-15. doi: 10.1002/glia.22744. Epub 2014 Aug 20. PMID: 25142016

The G protein-coupled receptor P2Y14 influences insulin release and smooth muscle function in mice

Meister J, Le Duc D, Ricken A, Burkhardt R, Thiery J, Pfannkuche H, Polte T, Grosse J, Schöneberg T, Schulz A.

J Biol Chem. 2014 Aug 22;289(34):23353-66. doi: 10.1074/jbc.M114.580803. Epub 2014 Jul 3. PMID: 24993824

Luciferase activity under direct ligand-dependent control of a muscarinic acetylcholine receptor

Thor D, Le Duc D, Strotmann R, Schöneberg T.

BMC Biotechnol. 2009 May 18;9:46. doi: 10.1186/1472-6750-9-46. PMID: 19450256

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*first author contribution