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Items: 1 to 50 of 387

1.

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R.

Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326.

PMID:
31688942
2.

iRhom2 inhibits bile duct obstruction-induced liver fibrosis.

Sundaram B, Behnke K, Belancic A, Al-Salihi MA, Thabet Y, Polz R, Pellegrino R, Zhuang Y, Shinde PV, Xu HC, Vasilevska J, Longerich T, Herebian D, Mayatepek E, Bock HH, May P, Kordes C, Aghaeepour N, Mak TW, Keitel V, Häussinger D, Scheller J, Pandyra AA, Lang KS, Lang PA.

Sci Signal. 2019 Oct 29;12(605). pii: eaax1194. doi: 10.1126/scisignal.aax1194.

PMID:
31662486
3.

Suppressor of cytokine signalling 3 is crucial for interleukin-7 receptor re-expression after T-cell activation and interleukin-7 dependent proliferation.

Güler A, Lopez Venegas M, Adankwah E, Mayatepek E, Nausch N, Jacobsen M.

Eur J Immunol. 2019 Oct 17. doi: 10.1002/eji.201948302. [Epub ahead of print]

PMID:
31621896
4.

Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations.

De Grandi A, Franzini M, Rosipal Š, Rosipal R, Debreova M, Corti A, Ruetzler-Dichtl E, Scholl-Bürgi S, Paolicchi A, Pompella A, Emdin M, Zampa G, Witt H, Zoller H, Tilg H, Mayatepek E, Herebian D, Pramstaller PP, Müller T, Janecke AR.

Hepatology. 2019 Sep 13. doi: 10.1002/hep.30944. [Epub ahead of print] No abstract available.

PMID:
31520399
5.

CD27 expression of T-cells discriminates IGRA-negative TB patients from healthy contacts in Ghana.

Adankwah E, Güler A, Mayatepek E, Phillips RO, Nausch N, Jacobsen M.

Microbes Infect. 2019 Aug 12. pii: S1286-4579(19)30082-6. doi: 10.1016/j.micinf.2019.07.003. [Epub ahead of print]

PMID:
31415814
6.

Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury.

Zhuang Y, Xu HC, Shinde PV, Warfsmann J, Vasilevska J, Sundaram B, Behnke K, Huang J, Hoell JI, Borkhardt A, Pfeffer K, Taha MS, Herebian D, Mayatepek E, Brenner D, Ahmadian MR, Keitel V, Wieczorek D, Häussinger D, Pandyra AA, Lang KS, Lang PA.

Gut. 2019 Aug 13. pii: gutjnl-2019-318215. doi: 10.1136/gutjnl-2019-318215. [Epub ahead of print]

7.

Evaluation of lipoprotein-associated phospholipase A2 as a marker for renal microvasculopathy in adolescents with Type 1 diabetes.

Seyfarth J, Herebian D, Reinauer C, Baechle C, Roden M, Holl RW, Reinehr T, Mayatepek E, Meissner T, Rosenbauer J.

Diabet Med. 2019 Jul 23. doi: 10.1111/dme.14086. [Epub ahead of print]

PMID:
31335994
8.

Two-Hit in vitro T-Cell Stimulation Detects Mycobacterium tuberculosis Infection in QuantiFERON Negative Tuberculosis Patients and Healthy Contacts From Ghana.

Adankwah E, Lundtoft C, Güler A, Franken KLMC, Ottenhoff THM, Mayatepek E, Owusu-Dabo E, Phillips RO, Nausch N, Jacobsen M.

Front Immunol. 2019 Jul 3;10:1518. doi: 10.3389/fimmu.2019.01518. eCollection 2019.

9.

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

Krenn M, Knaus A, Westphal DS, Wortmann SB, Polster T, Woermann FG, Karenfort M, Mayatepek E, Meitinger T, Wagner M, Distelmaier F.

Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May.

10.

CD4+ T-Cells With High Common γ Chain Expression and Disturbed Cytokine Production Are Enriched in Children With Type-1 Diabetes.

Seyfarth J, Mütze N, Antony Cruz J, Kummer S, Reinauer C, Mayatepek E, Meissner T, Jacobsen M.

Front Immunol. 2019 Apr 24;10:820. doi: 10.3389/fimmu.2019.00820. eCollection 2019.

11.

ZFP57-related Transient Neonatal Diabetes Responsive to Oral Sulfonylurea Treatment.

Reinauer C, Bergmann C, Jonasson A, Soditt V, Mayatepek E, Meißner T, Kummer S.

Klin Padiatr. 2019 Jul;231(4):225-226. doi: 10.1055/a-0889-8307. Epub 2019 May 7. No abstract available.

PMID:
31064016
12.

Bain type of X-linked syndromic mental retardation in boys.

Harmsen S, Buchert R, Mayatepek E, Haack TB, Distelmaier F.

Clin Genet. 2019 Jun;95(6):734-735. doi: 10.1111/cge.13524. Epub 2019 Mar 18.

PMID:
30887513
13.

Constitutive STAT3 phosphorylation and IL-6/IL-10 co-expression are associated with impaired T-cell function in tuberculosis patients.

Harling K, Adankwah E, Güler A, Afum-Adjei Awuah A, Adu-Amoah L, Mayatepek E, Owusu-Dabo E, Nausch N, Jacobsen M.

Cell Mol Immunol. 2019 Mar;16(3):275-287. doi: 10.1038/cmi.2018.5. Epub 2018 Mar 19.

PMID:
30886421
14.

Higher Interleukin-7 serum concentrations in patients with cystic fibrosis correlate with impaired lung function.

Seyfarth J, Sivagurunathan S, Ricken S, Weinreich G, Olbrich L, Taube C, Mayatepek E, Schramm D, Jacobsen M.

J Cyst Fibros. 2019 Jan;18(1):71-77. doi: 10.1016/j.jcf.2018.09.008. Epub 2018 Oct 31.

PMID:
30389600
15.

An IL7RA exon 5 polymorphism is associated with impaired IL-7Rα splicing and protection against tuberculosis in Ghana.

Lundtoft C, Awuah AA, Güler A, Harling K, Schaal H, Mayatepek E, Phillips RO, Nausch N, Owusu-Dabo E, Jacobsen M.

Genes Immun. 2019 Jul;20(6):514-519. doi: 10.1038/s41435-018-0049-5. Epub 2018 Oct 31.

PMID:
30377306
16.

Autoimmunity risk- and protection-associated IL7RA genetic variants differentially affect soluble and membrane IL-7Rα expression.

Lundtoft C, Seyfarth J, Oberstrass S, Rosenbauer J, Baechle C, Roden M, Holl RW, Mayatepek E, Kummer S, Meissner T, Jacobsen M.

J Autoimmun. 2019 Feb;97:40-47. doi: 10.1016/j.jaut.2018.10.003. Epub 2018 Oct 17.

PMID:
30342817
17.

Transplanted Human Pluripotent Stem Cell-Derived Mesenchymal Stem Cells Support Liver Regeneration in Gunn Rats.

Spitzhorn LS, Kordes C, Megges M, Sawitza I, Götze S, Reichert D, Schulze-Matz P, Graffmann N, Bohndorf M, Wruck W, Köhler JP, Herebian D, Mayatepek E, Oreffo ROC, Häussinger D, Adjaye J.

Stem Cells Dev. 2018 Nov 20. doi: 10.1089/scd.2018.0010. [Epub ahead of print]

PMID:
30280963
18.

Acceptability of Multiple Uncoated Minitablets in Infants and Toddlers: A Randomized Controlled Trial.

Klingmann V, Linderskamp H, Meissner T, Mayatepek E, Moeltner A, Breitkreutz J, Bosse HM.

J Pediatr. 2018 Oct;201:202-207.e1. doi: 10.1016/j.jpeds.2018.05.031. Epub 2018 Jun 28.

PMID:
29960767
19.

Severe ichthyosis in MPDU1-CDG.

Thiel C, Wortmann S, Riedhammer K, Alhaddad B, Mayatepek E, Prokisch H, Distelmaier F.

J Inherit Metab Dis. 2018 Nov;41(6):1293-1294. doi: 10.1007/s10545-018-0189-9. Epub 2018 May 2.

PMID:
29721919
20.

Blue Diaper Syndrome and PCSK1 Mutations.

Distelmaier F, Herebian D, Atasever C, Beck-Woedl S, Mayatepek E, Strom TM, Haack TB.

Pediatrics. 2018 Apr;141(Suppl 5):S501-S505. doi: 10.1542/peds.2017-0548.

21.

Constitutive STAT3 phosphorylation and IL-6/IL-10 co-expression are associated with impaired T-cell function in tuberculosis patients.

Harling K, Adankwah E, Güler A, Afum-Adjei Awuah A, Adu-Amoah L, Mayatepek E, Owusu-Dabo E, Nausch N, Jacobsen M.

Cell Mol Immunol. 2018 Mar 19. doi: 10.1038/cmi.2018.5. [Epub ahead of print]

PMID:
29553136
22.

Interleukin-7 receptor α-chain haplotypes differentially affect soluble IL-7 receptor and IL-7 serum concentrations in children with type 1 diabetes.

Seyfarth J, Lundtoft C, Förtsch K, Ahlert H, Rosenbauer J, Baechle C, Roden M, Holl RW, Mayatepek E, Kummer S, Meissner T, Jacobsen M.

Pediatr Diabetes. 2018 Aug;19(5):955-962. doi: 10.1111/pedi.12665. Epub 2018 Mar 13.

PMID:
29484785
23.

CISH promoter polymorphism effects on T cell cytokine receptor signaling and type 1 diabetes susceptibility.

Seyfarth J, Ahlert H, Rosenbauer J, Baechle C, Roden M, Holl RW, Mayatepek E, Meissner T, Jacobsen M.

Mol Cell Pediatr. 2018 Feb 6;5(1):2. doi: 10.1186/s40348-018-0080-7.

24.

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.

Tibussek D, Ghosh S, Huebner A, Schaper J, Mayatepek E, Koehler K.

BMC Pediatr. 2018 Jan 15;18(1):6. doi: 10.1186/s12887-017-0973-y.

25.

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency.

Herebian D, Seibt A, Smits SHJ, Rodenburg RJ, Mayatepek E, Distelmaier F.

Ann Clin Transl Neurol. 2017 Oct 17;4(12):902-908. doi: 10.1002/acn3.486. eCollection 2017 Dec.

26.

Lipoprotein-associated phospholipase A2 activity in obese adolescents with and without type 2 diabetes.

Seyfarth J, Reinehr T, Hoyer A, Reinauer C, Bächle C, Karges B, Mayatepek E, Roden M, Hofer SE, Wiegand S, Woelfle J, Kiess W, Rosenbauer J, Holl RW, Meissner T.

J Inherit Metab Dis. 2018 Jan;41(1):73-79. doi: 10.1007/s10545-017-0100-0. Epub 2017 Oct 13.

PMID:
29027597
27.

Hepatitis B virus surface proteins accelerate cholestatic injury and tumor progression in Abcb4-knockout mice.

Zahner D, Glimm H, Matono T, Churin Y, Herebian D, Mayatepek E, Köhler K, Gattenlöhner S, Stinn A, Tschuschner A, Roderfeld M, Roeb E.

Oncotarget. 2017 Feb 2;8(32):52560-52570. doi: 10.18632/oncotarget.15003. eCollection 2017 Aug 8.

28.

NMDAR antagonists for the treatment of diabetes mellitus-Current status and future directions.

Welters A, Klüppel C, Mrugala J, Wörmeyer L, Meissner T, Mayatepek E, Heiss C, Eberhard D, Lammert E.

Diabetes Obes Metab. 2017 Sep;19 Suppl 1:95-106. doi: 10.1111/dom.13017. Review.

PMID:
28880473
29.

Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation.

Ellinger P, Stindt J, Dröge C, Sattler K, Stross C, Kluge S, Herebian D, Smits SHJ, Burdelski M, Schulz-Jürgensen S, Ballauff A, Schulte Am Esch J, Mayatepek E, Häussinger D, Kubitz R, Schmitt L.

World J Gastroenterol. 2017 Aug 7;23(29):5295-5303. doi: 10.3748/wjg.v23.i29.5295.

30.

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F.

Stem Cell Res Ther. 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7.

31.

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F.

Eur J Hum Genet. 2017 Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14.

32.

Aberrant plasma IL-7 and soluble IL-7 receptor levels indicate impaired T-cell response to IL-7 in human tuberculosis.

Lundtoft C, Afum-Adjei Awuah A, Rimpler J, Harling K, Nausch N, Kohns M, Adankwah E, Lang F, Olbrich L, Mayatepek E, Owusu-Dabo E, Jacobsen M.

PLoS Pathog. 2017 Jun 5;13(6):e1006425. doi: 10.1371/journal.ppat.1006425. eCollection 2017 Jun.

33.

Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism.

Corda H, Kummer S, Welters A, Teig N, Klee D, Mayatepek E, Meissner T.

Orphanet J Rare Dis. 2017 Jun 2;12(1):108. doi: 10.1186/s13023-017-0653-x.

34.

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Herebian D, Seibt A, Smits SHJ, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F.

Mol Genet Metab. 2017 Jul;121(3):216-223. doi: 10.1016/j.ymgme.2017.05.012. Epub 2017 May 20.

PMID:
28552678
35.

Dominant TNFα and impaired IL-2 cytokine profiles of CD4+ T cells from children with type-1 diabetes.

Seyfarth J, Förtsch K, Ahlert H, Laws HJ, Karges B, Deenen R, Köhrer K, Mayatepek E, Meissner T, Jacobsen M.

Immunol Cell Biol. 2017 Aug;95(7):630-639. doi: 10.1038/icb.2017.24. Epub 2017 Apr 5.

PMID:
28377612
36.

Alternative Quantiferon cytokines for diagnosis of children with active tuberculosis and HIV co-infection in Ghana.

Lundtoft C, Awuah AA, Nausch N, Enimil A, Mayatepek E, Owusu-Dabo E, Jacobsen M.

Med Microbiol Immunol. 2017 Jun;206(3):259-265. doi: 10.1007/s00430-017-0501-6. Epub 2017 Mar 15.

PMID:
28299430
37.

Multiple cytokines for the detection of Mycobacterium tuberculosis infection in children with tuberculosis.

Nausch N, Lundtoft C, Schulz G, Henckel H, Mayatepek E, Fleischer B, Marx FM, Jacobsen M.

Int J Tuberc Lung Dis. 2017 Mar 1;21(3):270-277. doi: 10.5588/ijtld.16.0351.

PMID:
28225337
38.

Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

Santosa D, Donner MG, Vom Dahl S, Fleisch M, Hoehn T, Mayatepek E, Heldt K, Niehues T, Häussinger D.

JIMD Rep. 2017;37:1-5. doi: 10.1007/8904_2017_7. Epub 2017 Feb 21.

39.

Screening for non-alcoholic fatty liver disease in children and adolescents with type 1 diabetes mellitus: a cross-sectional analysis.

Kummer S, Klee D, Kircheis G, Friedt M, Schaper J, Häussinger D, Mayatepek E, Meissner T.

Eur J Pediatr. 2017 Apr;176(4):529-536. doi: 10.1007/s00431-017-2876-1. Epub 2017 Feb 17.

PMID:
28213828
40.

A novel mycobacterial In Vitro infection assay identifies differences of induced macrophage apoptosis between CD4+ and CD8+ T cells.

Nkwouano V, Witkowski S, Rehberg N, Kalscheuer R, Nausch N, Mayatepek E, Jacobsen M.

PLoS One. 2017 Feb 15;12(2):e0171817. doi: 10.1371/journal.pone.0171817. eCollection 2017.

41.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M.

Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26.

42.

Need for Better Diabetes Treatment: The Therapeutic Potential of NMDA Receptor Antagonists.

Welters A, Lammert E, Mayatepek E, Meissner T.

Klin Padiatr. 2017 Jan;229(1):14-20. doi: 10.1055/s-0042-117831. Epub 2016 Dec 14. Review.

PMID:
27975343
43.

Intrahepatic cholestasis of pregnancy (ICP): case report and review of the literature.

Keitel V, Dröge C, Stepanow S, Fehm T, Mayatepek E, Köhrer K, Häussinger D.

Z Gastroenterol. 2016 Dec;54(12):1327-1333. Epub 2016 Dec 9. Review.

PMID:
27936482
44.

Probable pseudotumor cerebri complex in 25 children. Further support of a concept.

Tibussek D, Distelmaier F, Karenfort M, Harmsen S, Klee D, Mayatepek E.

Eur J Paediatr Neurol. 2017 Mar;21(2):280-285. doi: 10.1016/j.ejpn.2016.10.004. Epub 2016 Oct 27.

PMID:
27825557
45.

The many faces of paediatric mitochondrial disease on neuroimaging.

Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F.

Childs Nerv Syst. 2016 Nov;32(11):2077-2083. Epub 2016 Jul 23. Review.

PMID:
27449766
46.

Case report: recurrent abdominal symptoms in a child with panhypopituitarism - there is always a differential.

Olbrich L, Schmidt E, Mayatepek E, Vogel M.

Int J Pediatr Endocrinol. 2016;2016:18. Epub 2016 Oct 10.

47.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H.

Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8.

48.

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F.

Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8.

PMID:
27502409
49.

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

Vogel M, Velleuer E, Schmidt-Jiménez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F.

Am J Med Genet A. 2016 Jul;170(7):1813-9. doi: 10.1002/ajmg.a.37682. Epub 2016 May 4.

PMID:
27144914
50.

Genetic cause and prevalence of hydroxyprolinemia.

Staufner C, Haack TB, Feyh P, Gramer G, Raga DE, Terrile C, Sauer S, Okun JG, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann GF, Kölker S.

J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2.

PMID:
27139199

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