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Items: 1 to 50 of 122

1.

Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis.

Wirtz TH, Fischer P, Backhaus C, Bergmann I, Brandt EF, Heinrichs D, Koenen MT, Schneider KM, Eggermann T, Kurth I, Stoppe C, Bernhagen J, Bruns T, Fischer J, Berg T, Trautwein C, Berres ML.

Int J Mol Sci. 2019 Jul 31;20(15). pii: E3753. doi: 10.3390/ijms20153753.

2.

Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.

Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M.

Bone. 2019 Oct;127:446-451. doi: 10.1016/j.bone.2019.07.016. Epub 2019 Jul 17.

PMID:
31325655
3.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP.

Exp Neurol. 2019 Oct;320:112958. doi: 10.1016/j.expneurol.2019.112958. Epub 2019 May 24.

PMID:
31132363
4.

Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.

Eggermann T, Begemann M, Kurth I, Elbracht M.

Eur J Med Genet. 2019 Jul;62(7):103671. doi: 10.1016/j.ejmg.2019.103671. Epub 2019 May 14.

PMID:
31100449
5.

Cancer stem cells in radiation response: current views and future perspectives in radiation oncology.

Peitzsch C, Kurth I, Ebert N, Dubrovska A, Baumann M.

Int J Radiat Biol. 2019 Jul;95(7):900-911. doi: 10.1080/09553002.2019.1589023. Epub 2019 Mar 29.

PMID:
30897014
6.

PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa.

Knopp C, Häusler M, Müller B, Damen R, Stoppe A, Mull M, Elbracht M, Kurth I, Begemann M.

Parkinsonism Relat Disord. 2019 Jun;63:240-242. doi: 10.1016/j.parkreldis.2019.02.007. Epub 2019 Feb 10. No abstract available.

PMID:
30777652
7.

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.

Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T.

Clin Epigenetics. 2019 Feb 15;11(1):30. doi: 10.1186/s13148-019-0629-x.

8.

Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy.

Klein T, Klug K, Henkel L, Kwok CK, Edenhofer F, Klopocki E, Kurth I, Üçeyler N.

Stem Cell Res. 2019 Mar;35:101396. doi: 10.1016/j.scr.2019.101396. Epub 2019 Feb 2.

9.

Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations.

Ammer-Herrmenau C, Kulkarni U, Andreas N, Ungelenk M, Ravens S, Hübner C, Kather A, Kurth I, Bauer M, Kamradt T.

PLoS One. 2019 Feb 7;14(2):e0211716. doi: 10.1371/journal.pone.0211716. eCollection 2019.

10.

The CD98 Heavy Chain Is a Marker and Regulator of Head and Neck Squamous Cell Carcinoma Radiosensitivity.

Digomann D, Kurth I, Tyutyunnykova A, Chen O, Löck S, Gorodetska I, Peitzsch C, Skvortsova II, Negro G, Aschenbrenner B, Eisenhofer G, Richter S, Heiden S, Porrmann J, Klink B, Schwager C, Dowle AA, Hein L, Kunz-Schughart LA, Abdollahi A, Lohaus F, Krause M, Baumann M, Linge A, Dubrovska A.

Clin Cancer Res. 2019 May 15;25(10):3152-3163. doi: 10.1158/1078-0432.CCR-18-2951. Epub 2019 Jan 22.

PMID:
30670494
11.

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.

Behrendt L, Kurth I, Kaether C.

Cell Mol Life Sci. 2019 Apr;76(7):1433-1445. doi: 10.1007/s00018-019-03010-x. Epub 2019 Jan 21.

12.

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I.

J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11.

13.

[Neuropathic pain syndromes and channelopathies].

Dohrn MF, Lampert A, Üçeyler N, Kurth I.

Internist (Berl). 2019 Jan;60(1):90-97. doi: 10.1007/s00108-018-0535-x. Review. German.

PMID:
30564884
14.

Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors.

Namer B, Schmidt D, Eberhardt E, Maroni M, Dorfmeister E, Kleggetveit IP, Kaluza L, Meents J, Gerlach A, Lin Z, Winterpacht A, Dragicevic E, Kohl Z, Schüttler J, Kurth I, Warncke T, Jorum E, Winner B, Lampert A.

EBioMedicine. 2019 Jan;39:401-408. doi: 10.1016/j.ebiom.2018.11.042. Epub 2018 Nov 28.

15.

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.

Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kabat IM, Müller B, Häusler M, Kurth I, Hehr U.

Mol Genet Genomic Med. 2018 Nov;6(6):1255-1260. doi: 10.1002/mgg3.490. Epub 2018 Nov 4.

16.

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation.

Quade A, Weis J, Kurth I, Rolke R, Bienert M, Schrading S, Rohrmann D, Yüksel Z, Häusler M.

Neuromuscul Disord. 2018 Dec;28(12):1006-1011. doi: 10.1016/j.nmd.2018.08.009. Epub 2018 Aug 29.

PMID:
30389422
17.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Fortugno P, Angelucci F, Cestra G, Camerota L, Ferraro AS, Cordisco S, Uccioli L, Castiglia D, De Angelis B, Kurth I, Kornak U, Brancati F.

Hum Mutat. 2019 Jan;40(1):106-114. doi: 10.1002/humu.23678. Epub 2018 Nov 18.

PMID:
30371979
18.

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.

Olschok K, Vester U, Lahme S, Kurth I, Eggermann T.

BMC Nephrol. 2018 Oct 20;19(1):278. doi: 10.1186/s12882-018-1080-5.

19.

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.

Krols M, Asselbergh B, De Rycke R, De Winter V, Seyer A, Müller FJ, Kurth I, Bultynck G, Timmerman V, Janssens S.

Hum Mol Genet. 2019 Feb 15;28(4):615-627. doi: 10.1093/hmg/ddy352.

20.

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.

Soellner L, Kraft F, Sauer S, Begemann M, Kurth I, Elbracht M, Eggermann T.

Eur J Hum Genet. 2019 Jan;27(1):42-48. doi: 10.1038/s41431-018-0269-1. Epub 2018 Sep 14.

PMID:
30218098
21.

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Eggermann T, Ledig S, Begemann M, Elbracht M, Kurth I, Wieacker P.

Mol Genet Genomic Med. 2018 Nov;6(6):1225-1228. doi: 10.1002/mgg3.426. Epub 2018 Aug 11.

22.

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.

Girdauskas E, Petersen J, Neumann N, Ungelenk M, Kurth I, Reichenspurner H, Zeller T.

PLoS One. 2018 Jul 30;13(7):e0200205. doi: 10.1371/journal.pone.0200205. eCollection 2018.

23.

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Elbracht M, Meyer R, Eggermann T, Kurth I.

Internist (Berl). 2018 Aug;59(8):756-765. doi: 10.1007/s00108-018-0457-7. Review. German.

PMID:
29946883
24.

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

Krols M, Detry S, Asselbergh B, Almeida-Souza L, Kremer A, Lippens S, De Rycke R, De Winter V, Müller FJ, Kurth I, McMahon HT, Savvides SN, Timmerman V, Janssens S.

Cell Rep. 2018 May 15;23(7):2026-2038. doi: 10.1016/j.celrep.2018.04.071.

25.

Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.

Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brümmendorf TH, Beier F.

Leukemia. 2018 Aug;32(8):1762-1767. doi: 10.1038/s41375-018-0125-x. Epub 2018 Apr 2.

PMID:
29749397
26.

Hereditary Neuropathies.

Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I.

Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Review.

27.

LXR/ApoE Activation Restricts Innate Immune Suppression in Cancer.

Tavazoie MF, Pollack I, Tanqueco R, Ostendorf BN, Reis BS, Gonsalves FC, Kurth I, Andreu-Agullo C, Derbyshire ML, Posada J, Takeda S, Tafreshian KN, Rowinsky E, Szarek M, Waltzman RJ, Mcmillan EA, Zhao C, Mita M, Mita A, Chmielowski B, Postow MA, Ribas A, Mucida D, Tavazoie SF.

Cell. 2018 Feb 8;172(4):825-840.e18. doi: 10.1016/j.cell.2017.12.026. Epub 2018 Jan 11.

28.

Noncoding copy-number variations are associated with congenital limb malformation.

Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M.

Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12.

PMID:
29236091
29.

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

Eggermann T, Oehl-Jaschkowitz B, Dicks S, Thomas W, Kanber D, Albrecht B, Begemann M, Kurth I, Beygo J, Buiting K.

Mol Genet Genomic Med. 2017 Nov;5(6):668-677. doi: 10.1002/mgg3.324. Epub 2017 Sep 22.

30.

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D.

Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):732-739. doi: 10.1002/ajmg.b.32570. Epub 2017 Aug 2.

PMID:
28766925
31.

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Quade A, Wiesmann M, Weis J, Kurth I, Jalaie H, Rohrbach M, Häusler M.

Pediatr Neurol. 2017 Sep;74:92-96. doi: 10.1016/j.pediatrneurol.2017.05.017. Epub 2017 May 29.

PMID:
28739362
32.

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C.

Pediatr Nephrol. 2017 Oct;32(10):1989-1992. doi: 10.1007/s00467-017-3710-8. Epub 2017 Jun 15. Review.

PMID:
28620746
33.

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.

Girdauskas E, Geist L, Disha K, Kazakbaev I, Groß T, Schulz S, Ungelenk M, Kuntze T, Reichenspurner H, Kurth I.

Eur J Cardiothorac Surg. 2017 Jul 1;52(1):156-162. doi: 10.1093/ejcts/ezx065.

PMID:
28387797
34.

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.

King MK, Leipold E, Goehringer JM, Kurth I, Challman TD.

Neurogenetics. 2017 Jul;18(3):179-181. doi: 10.1007/s10048-017-0513-9. Epub 2017 Mar 13. No abstract available.

PMID:
28289907
35.

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene.

Saini AG, Padmanabh H, Sahu JK, Kurth I, Voigt M, Singhi P.

Indian J Pediatr. 2017 Apr;84(4):332-333. doi: 10.1007/s12098-016-2284-y. Epub 2017 Jan 3. No abstract available.

PMID:
28050684
36.

Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.

Schulz A, Wagner F, Ungelenk M, Kurth I, Redecker C.

Transl Neurodegener. 2016 Dec 27;5:23. doi: 10.1186/s40035-016-0069-x. eCollection 2016.

37.

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M.

Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26.

PMID:
28024309
38.

Mutations in CRLF1 cause familial achalasia.

Busch A, Žarković M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA.

Clin Genet. 2017 Jul;92(1):104-108. doi: 10.1111/cge.12953. Epub 2017 Mar 15.

PMID:
27976805
39.

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

Chiabrando D, Castori M, di Rocco M, Ungelenk M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Bartsch S, Hübner CA, Altruda F, Silengo L, Tolosano E, Kurth I.

PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461. eCollection 2016 Dec.

40.

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

Coci EG, Codutti L, Fink C, Bartsch S, Grüning G, Lücke T, Kurth I, Riedel J.

Mol Cell Probes. 2017 Apr;32:18-23. doi: 10.1016/j.mcp.2016.11.002. Epub 2016 Nov 14.

PMID:
27856333
41.

[Social support in gender reassignment surgery].

Hess J, Kurth I, Henkel A, Panic L, Rübben H, Rossi Neto R, Hess-Busch Y.

Urologe A. 2017 Feb;56(2):186-193. doi: 10.1007/s00120-016-0261-8. German.

PMID:
27830287
42.

Formation of new chromatin domains determines pathogenicity of genomic duplications.

Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S.

Nature. 2016 Oct 13;538(7624):265-269. doi: 10.1038/nature19800. Epub 2016 Oct 5.

PMID:
27706140
43.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

44.

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

Hentschel J, Tatun D, Parkhomchuk D, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Peters H, Beetz C.

Gene. 2016 Sep 15;590(1):1-4. doi: 10.1016/j.gene.2016.05.040. Epub 2016 May 31.

PMID:
27259663
45.

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.

Kurth I, Baumgartner M, Schabhüttl M, Tomni C, Windhager R, Strom TM, Wieland T, Gremel K, Auer-Grumbach M.

Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):875-8. doi: 10.1002/ajmg.b.32458. Epub 2016 May 17.

PMID:
27184211
46.

Efficacy of Beta1 Integrin and EGFR Targeting in Sphere-Forming Human Head and Neck Cancer Cells.

Zscheppang K, Kurth I, Wachtel N, Dubrovska A, Kunz-Schughart LA, Cordes N.

J Cancer. 2016 Apr 2;7(6):736-45. doi: 10.7150/jca.14232. eCollection 2016.

47.

An Epigenetic Reprogramming Strategy to Resensitize Radioresistant Prostate Cancer Cells.

Peitzsch C, Cojoc M, Hein L, Kurth I, Mäbert K, Trautmann F, Klink B, Schröck E, Wirth MP, Krause M, Stakhovsky EA, Telegeev GD, Novotny V, Toma M, Muders M, Baretton GB, Frame FM, Maitland NJ, Baumann M, Dubrovska A.

Cancer Res. 2016 May 1;76(9):2637-51. doi: 10.1158/0008-5472.CAN-15-2116. Epub 2016 Mar 16.

48.

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.

Leipold E, Hanson-Kahn A, Frick M, Gong P, Bernstein JA, Voigt M, Katona I, Oliver Goral R, Altmüller J, Nürnberg P, Weis J, Hübner CA, Heinemann SH, Kurth I.

Nat Commun. 2015 Dec 8;6:10049. doi: 10.1038/ncomms10049.

49.

Cancer stem cell related markers of radioresistance in head and neck squamous cell carcinoma.

Kurth I, Hein L, Mäbert K, Peitzsch C, Koi L, Cojoc M, Kunz-Schughart L, Baumann M, Dubrovska A.

Oncotarget. 2015 Oct 27;6(33):34494-509. doi: 10.18632/oncotarget.5417.

50.

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I.

Eur J Hum Genet. 2015 Oct;23(10):1434. doi: 10.1038/ejhg.2015.163. No abstract available.

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