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Items: 1 to 50 of 229

1.

Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.

Hoffmann S, Paone C, Sumer SA, Diebold S, Weiss B, Roeth R, Clauss S, Klier I, Kääb S, Schulz A, Wild PS, Ghrib A, Zeller T, Schnabel RB, Just S, Rappold GA.

Front Genet. 2019 Jul 11;10:648. doi: 10.3389/fgene.2019.00648. eCollection 2019.

2.

Postnatal human enteric neurospheres show a remarkable molecular complexity.

Schmitteckert S, Mederer T, Röth R, Günther P, Holland-Cunz S, Metzger M, Samstag Y, Schröder-Braunstein J, Wabnitz G, Kurzhals S, Scheuerer J, Beretta CA, Lasitschka F, Rappold GA, Romero P, Niesler B.

Neurogastroenterol Motil. 2019 Jul 18:e13674. doi: 10.1111/nmo.13674. [Epub ahead of print]

PMID:
31318473
3.

Sex Hormones Regulate SHANK Expression.

Berkel S, Eltokhi A, Fröhlich H, Porras-Gonzalez D, Rafiullah R, Sprengel R, Rappold GA.

Front Mol Neurosci. 2018 Sep 25;11:337. doi: 10.3389/fnmol.2018.00337. eCollection 2018.

4.

Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants.

Eltokhi A, Rappold G, Sprengel R.

Front Mol Neurosci. 2018 Jul 19;11:240. doi: 10.3389/fnmol.2018.00240. eCollection 2018. Review.

5.

SHOX Deficiency Disorders.

Binder G, Rappold GA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Dec 12 [updated 2018 Jun 28].

6.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.

Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA.

Eur J Hum Genet. 2018 Aug;26(8):1113-1120. doi: 10.1038/s41431-018-0148-9. Epub 2018 Apr 30.

7.

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.

de Sena Cortabitarte A, Berkel S, Cristian FB, Fischer C, Rappold GA.

J Neurodev Disord. 2018 Apr 17;10(1):15. doi: 10.1186/s11689-018-9233-1.

8.

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.

Simm F, Griesbeck A, Choukair D, Weiß B, Paramasivam N, Klammt J, Schlesner M, Wiemann S, Martinez C, Hoffmann GF, Pfäffle RW, Bettendorf M, Rappold GA.

Genet Med. 2018 Jul;20(7):728-736. doi: 10.1038/gim.2017.165. Epub 2017 Oct 26.

PMID:
29261175
9.

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, Bolthauser E, Blum M, Kahn RA, Caspary T, Rappold GA.

Eur J Hum Genet. 2017 Dec;25(12):1324-1334. doi: 10.1038/s41431-017-0031-0. Epub 2017 Nov 15.

10.

Murine transgenic embryonic stem cell lines for the investigation of sinoatrial node-related molecular pathways.

Schmitteckert S, Griesbeck A, Sumer S, Jauch A, Rolletschek A, Niesler B, Rappold GA, Hoffmann S.

Stem Cell Res. 2017 Dec;25:278-282. doi: 10.1016/j.scr.2017.07.011. Epub 2017 Jul 11.

11.

miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome.

Wohlfarth C, Schmitteckert S, Härtle JD, Houghton LA, Dweep H, Fortea M, Assadi G, Braun A, Mederer T, Pöhner S, Becker PP, Fischer C, Granzow M, Mönnikes H, Mayer EA, Sayuk G, Boeckxstaens G, Wouters MM, Simrén M, Lindberg G, Ohlsson B, Schmidt PT, Dlugosz A, Agreus L, Andreasson A, D'Amato M, Burwinkel B, Bermejo JL, Röth R, Lasitschka F, Vicario M, Metzger M, Santos J, Rappold GA, Martinez C, Niesler B.

Sci Rep. 2017 Oct 31;7(1):14680. doi: 10.1038/s41598-017-13982-0.

12.

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells.

Hoffmann S, Schmitteckert S, Griesbeck A, Preiss H, Sumer S, Rolletschek A, Granzow M, Eckstein V, Niesler B, Rappold GA.

Stem Cell Res. 2017 May;21:51-57. doi: 10.1016/j.scr.2017.03.018. Epub 2017 Mar 29.

13.

Investigation of SHANK3 in schizophrenia.

de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, Giegling I, Heilmann-Heimbach S, Hofmann A, Rujescu D, Fischer C, Rietschel M, Nöthen MM, Rappold GA, Berkel S.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):390-398. doi: 10.1002/ajmg.b.32528. Epub 2017 Mar 28.

PMID:
28371232
14.

Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.

Fröhlich H, Rafiullah R, Schmitt N, Abele S, Rappold GA.

Hum Mol Genet. 2017 Apr 15;26(8):1511-1521. doi: 10.1093/hmg/ddx055.

PMID:
28204507
15.

miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea.

Martínez C, Rodiño-Janeiro BK, Lobo B, Stanifer ML, Klaus B, Granzow M, González-Castro AM, Salvo-Romero E, Alonso-Cotoner C, Pigrau M, Roeth R, Rappold G, Huber W, González-Silos R, Lorenzo J, de Torres I, Azpiroz F, Boulant S, Vicario M, Niesler B, Santos J.

Gut. 2017 Sep;66(9):1537-1538. doi: 10.1136/gutjnl-2016-311477. Epub 2017 Jan 12.

16.

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.

Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA.

EMBO Mol Med. 2016 Dec 1;8(12):1455-1469. doi: 10.15252/emmm.201606623. Print 2016 Dec.

17.

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M.

J Hum Genet. 2016 Oct;61(10):867-872. doi: 10.1038/jhg.2016.62. Epub 2016 Jun 16.

PMID:
27305979
18.

The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant Database.

Celli J, Rappold G, Niesler B.

Hum Mutat. 2017 Feb;38(2):137-147. doi: 10.1002/humu.23136. Epub 2016 Nov 9.

PMID:
27763704
19.

A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Marchini A, Ogata T, Rappold GA.

Endocr Rev. 2016 Aug;37(4):417-48. doi: 10.1210/er.2016-1036. Epub 2016 Jun 29. Review.

20.

Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation.

Hoffmann S, Clauss S, Berger IM, Weiß B, Montalbano A, Röth R, Bucher M, Klier I, Wakili R, Seitz H, Schulze-Bahr E, Katus HA, Flachsbart F, Nebel A, Guenther SP, Bagaev E, Rottbauer W, Kääb S, Just S, Rappold GA.

Basic Res Cardiol. 2016 May;111(3):36. doi: 10.1007/s00395-016-0557-2. Epub 2016 Apr 30.

21.

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE.

Hum Mol Genet. 2016 Feb 1;25(3):546-57. doi: 10.1093/hmg/ddv495. Epub 2015 Dec 8.

PMID:
26647308
22.

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S.

J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13.

PMID:
26566883
23.

Rare SHANK2 variants in schizophrenia.

Peykov S, Berkel S, Degenhardt F, Rietschel M, Nöthen MM, Rappold GA.

Mol Psychiatry. 2015 Dec;20(12):1487-8. doi: 10.1038/mp.2015.122. Epub 2015 Aug 25. No abstract available.

24.

Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex.

Li X, Xiao J, Fröhlich H, Tu X, Li L, Xu Y, Cao H, Qu J, Rappold GA, Chen JG.

PLoS One. 2015 May 26;10(5):e0127671. doi: 10.1371/journal.pone.0127671. eCollection 2015.

25.

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.

Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF.

Horm Res Paediatr. 2015;84(1):14-25. doi: 10.1159/000381712. Epub 2015 May 6.

PMID:
25967354
26.

Identification and functional characterization of rare SHANK2 variants in schizophrenia.

Peykov S, Berkel S, Schoen M, Weiss K, Degenhardt F, Strohmaier J, Weiss B, Proepper C, Schratt G, Nöthen MM, Boeckers TM, Rietschel M, Rappold GA.

Mol Psychiatry. 2015 Dec;20(12):1489-98. doi: 10.1038/mp.2014.172. Epub 2015 Jan 6.

27.

Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour.

Bacon C, Schneider M, Le Magueresse C, Froehlich H, Sticht C, Gluch C, Monyer H, Rappold GA.

Mol Psychiatry. 2015 May;20(5):632-9. doi: 10.1038/mp.2014.116. Epub 2014 Sep 30.

28.

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.

Ek WE, Reznichenko A, Ripke S, Niesler B, Zucchelli M, Rivera NV, Schmidt PT, Pedersen NL, Magnusson P, Talley NJ, Holliday EG, Houghton L, Gazouli M, Karamanolis G, Rappold G, Burwinkel B, Surowy H, Rafter J, Assadi G, Li L, Papadaki E, Gambaccini D, Marchi S, Colucci R, Blandizzi C, Barbaro R, Karling P, Walter S, Ohlsson B, Tornblom H, Bresso F, Andreasson A, Dlugosz A, Simren M, Agreus L, Lindberg G, Boeckxstaens G, Bellini M, Stanghellini V, Barbara G, Daly MJ, Camilleri M, Wouters MM, D'Amato M.

Gut. 2015 Nov;64(11):1774-82. doi: 10.1136/gutjnl-2014-307997. Epub 2014 Sep 23.

PMID:
25248455
29.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.

PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.

30.

Identification of novel SHOX target genes in the developing limb using a transgenic mouse model.

Beiser KU, Glaser A, Kleinschmidt K, Scholl I, Röth R, Li L, Gretz N, Mechtersheimer G, Karperien M, Marchini A, Richter W, Rappold GA.

PLoS One. 2014 Jun 2;9(6):e98543. doi: 10.1371/journal.pone.0098543. eCollection 2014.

31.

Genome-wide UPD screening in patients with intellectual disability.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M.

Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7.

32.

A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders.

Hammer C, Degenhardt F, Priebe L, Stütz AM, Heilmann S, Waszak SM, Schlattl A, Mangold E, Hoffmann P, Nöthen MM, Rietschel M, Rappold G, Korbel J, Cichon S, Niesler B; MooDS Consortium.

Bipolar Disord. 2014 Nov;16(7):764-8. doi: 10.1111/bdi.12207. Epub 2014 Apr 23.

PMID:
24754353
33.

Tbx4 interacts with the short stature homeobox gene Shox2 in limb development.

Glaser A, Arora R, Hoffmann S, Li L, Gretz N, Papaioannou VE, Rappold GA.

Dev Dyn. 2014 May;243(5):629-39. doi: 10.1002/dvdy.24104. Epub 2014 Jan 28.

34.

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

Harmel EM, Binder G, Barnikol-Oettler A, Caliebe J, Kiess W, Losekoot M, Ranke MB, Rappold GA, Schlicke M, Stobbe H, Wit JM, Pfäffle R, Klammt J.

Horm Res Paediatr. 2013;80(6):431-42. doi: 10.1159/000355410. Epub 2013 Nov 26.

PMID:
24296753
35.

SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.

Hristov G, Marttila T, Durand C, Niesler B, Rappold GA, Marchini A.

Hum Mol Genet. 2014 Mar 15;23(6):1619-30. doi: 10.1093/hmg/ddt552. Epub 2013 Nov 1.

PMID:
24186869
36.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

Blum WF, Ross JL, Zimmermann AG, Quigley CA, Child CJ, Kalifa G, Deal C, Drop SL, Rappold G, Cutler GB Jr.

J Clin Endocrinol Metab. 2013 Aug;98(8):E1383-92. doi: 10.1210/jc.2013-1222. Epub 2013 May 29. Erratum in: J Clin Endocrinol Metab. 2013 Dec;98(12):4992.

PMID:
23720786
37.

Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia.

Hoffmann S, Berger IM, Glaser A, Bacon C, Li L, Gretz N, Steinbeisser H, Rottbauer W, Just S, Rappold G.

Basic Res Cardiol. 2013 Mar;108(2):339. doi: 10.1007/s00395-013-0339-z. Epub 2013 Mar 1.

38.

Height matters-from monogenic disorders to normal variation.

Durand C, Rappold GA.

Nat Rev Endocrinol. 2013 Mar;9(3):171-7. doi: 10.1038/nrendo.2012.251. Epub 2013 Jan 22. Review.

PMID:
23337954
39.

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability.

Kleffmann W, Zink AM, Lee JA, Senderek J, Mangold E, Moog U, Rappold GA, Wohlleber E, Engels H.

Mol Syndromol. 2012 Aug;3(2):68-75. doi: 10.1159/000341252. Epub 2012 Jul 25.

40.

Fetal mesenchymal stromal cells differentiating towards chondrocytes acquire a gene expression profile resembling human growth plate cartilage.

van Gool SA, Emons JA, Leijten JC, Decker E, Sticht C, van Houwelingen JC, Goeman JJ, Kleijburg C, Scherjon SA, Gretz N, Wit JM, Rappold G, Post JN, Karperien M.

PLoS One. 2012;7(11):e44561. doi: 10.1371/journal.pone.0044561. Epub 2012 Nov 5.

41.

The cellular function of srGAP3 and its role in neuronal morphogenesis.

Bacon C, Endris V, Rappold GA.

Mech Dev. 2013 Jun-Aug;130(6-8):391-5. doi: 10.1016/j.mod.2012.10.005. Epub 2012 Nov 2. Review.

42.

The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures.

Durand C, Decker E, Roeth R, Schneider KU, Rappold G.

PLoS One. 2012;7(9):e45369. doi: 10.1371/journal.pone.0045369. Epub 2012 Sep 20.

43.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM.

Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.

PMID:
23020937
44.

New roles of SHOX as regulator of target genes.

Rappold GA, Durand C, Decker E, Marchini A, Schneider KU.

Pediatr Endocrinol Rev. 2012 May;9 Suppl 2:733-8.

PMID:
22946287
45.

Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study.

Hammer C, Cichon S, Mühleisen TW, Haenisch B, Degenhardt F, Mattheisen M, Breuer R, Witt SH, Strohmaier J, Oruc L, Rivas F, Babadjanova G, Grigoroiu-Serbanescu M, Hauser J, Röth R, Rappold G, Rietschel M, Nöthen MM, Niesler B.

Transl Psychiatry. 2012 Apr 17;2:e103. doi: 10.1038/tp.2012.30.

46.

Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes.

Waltereit R, Leimer U, von Bohlen Und Halbach O, Panke J, Hölter SM, Garrett L, Wittig K, Schneider M, Schmitt C, Calzada-Wack J, Neff F, Becker L, Prehn C, Kutscherjawy S, Endris V, Bacon C, Fuchs H, Gailus-Durner V, Berger S, Schönig K, Adamski J, Klopstock T, Esposito I, Wurst W, de Angelis MH, Rappold G, Wieland T, Bartsch D.

FASEB J. 2012 Nov;26(11):4418-28. doi: 10.1096/fj.11-202317. Epub 2012 Jul 20.

PMID:
22820399
47.

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders.

Bacon C, Rappold GA.

Hum Genet. 2012 Nov;131(11):1687-98. doi: 10.1007/s00439-012-1193-z. Epub 2012 Jun 27. Review.

48.

Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis.

Leijten JC, Emons J, Sticht C, van Gool S, Decker E, Uitterlinden A, Rappold G, Hofman A, Rivadeneira F, Scherjon S, Wit JM, van Meurs J, van Blitterswijk CA, Karperien M.

Arthritis Rheum. 2012 Oct;64(10):3302-12. doi: 10.1002/art.34535.

49.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW.

Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12.

50.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A.

Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.

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