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Items: 1 to 50 of 63

1.

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.

Tüngler V, Doebler-Neumann M, Salandin M, Kaufmann P, Wolf C, Lucas N, Harmuth F, Reichbauer J, Krägeloh-Mann I, Schüle R, Lee-Kirsch MA.

Neurol Genet. 2019 Dec 19;6(1):e384. doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb. No abstract available.

2.

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neill KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R.

J Clin Invest. 2020 Feb 24. pii: 129301. doi: 10.1172/JCI129301. [Epub ahead of print]

3.

Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation.

Zimmermann N, Wolf C, Schwenke R, Lüth A, Schmidt F, Engel K, Lee-Kirsch MA, Günther C.

JAMA Dermatol. 2019 Mar 1;155(3):342-346. doi: 10.1001/jamadermatol.2018.5077.

4.

Therapeutic Approaches to Type I Interferonopathies.

Bienias M, Brück N, Griep C, Wolf C, Kretschmer S, Kind B, Tüngler V, Berner R, Lee-Kirsch MA.

Curr Rheumatol Rep. 2018 Apr 20;20(6):32. doi: 10.1007/s11926-018-0743-3. Review.

PMID:
29679241
5.

SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.

Günther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Rüschendorf F, Klein B, Berndt N, Zimmermann N, Flachmeier C, Thuß T, Lucas N, Marenholz I, Esparza-Gordillo J, Hübner N, Traupe H, Delaporte E, Lee YA.

J Invest Dermatol. 2018 Jun;138(6):1428-1431. doi: 10.1016/j.jid.2018.01.015. Epub 2018 Feb 1. No abstract available.

6.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Schmelzer L, Smitka M, Wolf C, Lucas N, Tüngler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M.

Eur J Paediatr Neurol. 2018 Jan;22(1):186-189. doi: 10.1016/j.ejpn.2017.11.003. Epub 2017 Nov 22.

PMID:
29221912
7.

Type I interferon-mediated autoinflammation and autoimmunity.

Kretschmer S, Lee-Kirsch MA.

Curr Opin Immunol. 2017 Dec;49:96-102. doi: 10.1016/j.coi.2017.09.003. Epub 2017 Nov 10. Review.

PMID:
29128691
8.

Single Cell Gel Electrophoresis for the Detection of Genomic Ribonucleotides.

Kind B, Wolf C, Engel K, Rapp A, Cristina Cardoso M, Lee-Kirsch MA.

Methods Mol Biol. 2018;1672:311-318. doi: 10.1007/978-1-4939-7306-4_21.

PMID:
29043632
9.

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.

Achleitner M, Kleefisch M, Hennig A, Peschke K, Polikarpova A, Oertel R, Gabriel B, Schulze L, Lindeman D, Gerbaulet A, Fiebig U, Lee-Kirsch MA, Roers A, Behrendt R.

J Immunol. 2017 Oct 1;199(7):2261-2269. doi: 10.4049/jimmunol.1700714. Epub 2017 Aug 23.

10.

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.

Skrabl-Baumgartner A, Plecko B, Schmidt WM, König N, Hershfield M, Gruber-Sedlmayr U, Lee-Kirsch MA.

Pediatr Rheumatol Online J. 2017 Aug 22;15(1):67. doi: 10.1186/s12969-017-0193-x.

11.

[Genetic methods for analysis of autoinflammatory diseases].

Bienias M, König N, Wolf C, Kretschmer S, Rösen-Wolff A, Berner R, Tüngler V, Lee-Kirsch MA.

Z Rheumatol. 2017 May;76(4):295-302. doi: 10.1007/s00393-017-0300-x. Review. German.

PMID:
28378116
12.

The Type I Interferonopathies.

Lee-Kirsch MA.

Annu Rev Med. 2017 Jan 14;68:297-315. doi: 10.1146/annurev-med-050715-104506. Epub 2016 Nov 2. Review.

PMID:
27813875
13.

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

Tüngler V, König N, Günther C, Engel K, Fiehn C, Smitka M, von der Hagen M, Berner R, Lee-Kirsch MA.

Ann Rheum Dis. 2016 Dec;75(12):e76. doi: 10.1136/annrheumdis-2016-210565. Epub 2016 Nov 3. No abstract available.

PMID:
27811148
14.

Nucleic acid-mediated autoinflammation and autoimmunity-type I interferonopathies.

Lee-Kirsch MA, Günther C, Roers A.

J Mol Med (Berl). 2016 Oct;94(10):1081-1084. No abstract available.

PMID:
27638338
15.

Familial chilblain lupus due to a gain-of-function mutation in STING.

König N, Fiehn C, Wolf C, Schuster M, Cura Costa E, Tüngler V, Alvarez HA, Chara O, Engel K, Goldbach-Mansky R, Günther C, Lee-Kirsch MA.

Ann Rheum Dis. 2017 Feb;76(2):468-472. doi: 10.1136/annrheumdis-2016-209841. Epub 2016 Aug 26.

PMID:
27566796
16.

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M.

J Cyst Fibros. 2016 Nov;15(6):752-758. doi: 10.1016/j.jcf.2016.07.002. Epub 2016 Jul 22.

17.

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA.

Wolf C, Rapp A, Berndt N, Staroske W, Schuster M, Dobrick-Mattheuer M, Kretschmer S, König N, Kurth T, Wieczorek D, Kast K, Cardoso MC, Günther C, Lee-Kirsch MA.

Nat Commun. 2016 May 27;7:11752. doi: 10.1038/ncomms11752.

18.

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M.

Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26.

PMID:
26923722
19.

[Type I interferonopathies. Systemic inflammatory diseases triggered by type I interferons].

Günther C, Schmidt F, König N, Lee-Kirsch MA.

Z Rheumatol. 2016 Mar;75(2):134-40. doi: 10.1007/s00393-015-0027-5. Review. German.

PMID:
26744186
20.

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, Altmaier E, Sleiman PM, Xiao FL, Gonzalez JR, Marenholz I, Kalb B, Yanes MP, Xu CJ, Carstensen L, Groen-Blokhuis MM, Venturini C, Pennell CE, Barton SJ, Levin AM, Curjuric I, Bustamante M, Kreiner-Møller E, Lockett GA, Bacelis J, Bunyavanich S, Myers RA, Matanovic A, Kumar A, Tung JY, Hirota T, Kubo M, McArdle WL, Henderson AJ, Kemp JP, Zheng J, Smith GD, Rüschendorf F, Bauerfeind A, Lee-Kirsch MA, Arnold A, Homuth G, Schmidt CO, Mangold E, Cichon S, Keil T, Rodríguez E, Peters A, Franke A, Lieb W, Novak N, Fölster-Holst R, Horikoshi M, Pekkanen J, Sebert S, Husemoen LL, Grarup N, de Jongste JC, Rivadeneira F, Hofman A, Jaddoe VW, Pasmans SG, Elbert NJ, Uitterlinden AG, Marks GB, Thompson PJ, Matheson MC, Robertson CF; Australian Asthma Genetics Consortium (AAGC), Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O'Regan GM, Fahy CM, Campbell LE, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thiering E, Pahukasahasram B, Yang JJ, Imboden M, Huntsman S, Vilor-Tejedor N, Relton CL, Myhre R, Nystad W, Custovic A, Weiss ST, Meyers DA, Söderhäll C, Melén E, Ober C, Raby BA, Simpson A, Jacobsson B, Holloway JW, Bisgaard H, Sunyer J, Hensch NMP, Williams LK, Godfrey KM, Wang CA, Boomsma DI, Melbye M, Koppelman GH, Jarvis D, McLean WI, Irvine AD, Zhang XJ, Hakonarson H, Gieger C, Burchard EG, Martin NG, Duijts L, Linneberg A, Jarvelin MR, Noethen MM, Lau S, Hübner N, Lee YA, Tamari M, Hinds DA, Glass D, Brown SJ, Heinrich J, Evans DM, Weidinger S.

Nat Genet. 2015 Dec;47(12):1449-1456. doi: 10.1038/ng.3424. Epub 2015 Oct 19.

21.

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.

Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA.

Pediatr Rheumatol Online J. 2015 Sep 7;13(1):37. doi: 10.1186/s12969-015-0035-7.

22.

Type I interferonopathies--an expanding disease spectrum of immunodysregulation.

Lee-Kirsch MA, Wolf C, Kretschmer S, Roers A.

Semin Immunopathol. 2015 Jul;37(4):349-57. doi: 10.1007/s00281-015-0500-x. Epub 2015 May 22. Review.

PMID:
25998914
23.

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.

Esparza-Gordillo J, Matanovic A, Marenholz I, Bauerfeind A, Rohde K, Nemat K, Lee-Kirsch MA, Nordenskjöld M, Winge MC, Keil T, Krüger R, Lau S, Beyer K, Kalb B, Niggemann B, Hübner N, Cordell HJ, Bradley M, Lee YA.

PLoS Genet. 2015 Mar 10;11(3):e1005076. doi: 10.1371/journal.pgen.1005076. eCollection 2015 Mar.

24.

Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL.

Schuh E, Ertl-Wagner B, Lohse P, Wolf W, Mann JF, Lee-Kirsch MA, Hohlfeld R, Kümpfel T.

Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e55. doi: 10.1212/NXI.0000000000000055. eCollection 2015 Feb. No abstract available.

25.

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

Günther C, Berndt N, Wolf C, Lee-Kirsch MA.

JAMA Dermatol. 2015 Apr;151(4):426-31. doi: 10.1001/jamadermatol.2014.3438.

PMID:
25517357
26.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Günther C, Kind B, Reijns MA, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee YA, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell KR, Ramantani G, Bauerfeind A, Morris DL, Cunninghame Graham DS, Bubeck D, Leitch A, Ralston SH, Blackburn EA, Gahr M, Witte T, Vyse TJ, Melchers I, Mangold E, Nöthen MM, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs JD, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme ME, Jackson AP, Lee-Kirsch MA.

J Clin Invest. 2015 Jan;125(1):413-24. doi: 10.1172/JCI78001. Epub 2014 Dec 15.

27.

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.

Kind B, Muster B, Staroske W, Herce HD, Sachse R, Rapp A, Schmidt F, Koss S, Cardoso MC, Lee-Kirsch MA.

Hum Mol Genet. 2014 Nov 15;23(22):5950-60. doi: 10.1093/hmg/ddu319. Epub 2014 Jun 30.

PMID:
24986920
28.

SAMHD1 prevents autoimmunity by maintaining genome stability.

Kretschmer S, Wolf C, König N, Staroske W, Guck J, Häusler M, Luksch H, Nguyen LA, Kim B, Alexopoulou D, Dahl A, Rapp A, Cardoso MC, Shevchenko A, Lee-Kirsch MA.

Ann Rheum Dis. 2015 Mar;74(3):e17. doi: 10.1136/annrheumdis-2013-204845. Epub 2014 Jan 20.

29.

Deregulated type I IFN response in TREX1-associated familial chilblain lupus.

Peschke K, Friebe F, Zimmermann N, Wahlicht T, Schumann T, Achleitner M, Berndt N, Luksch H, Behrendt R, Lee-Kirsch MA, Roers A, Günther C.

J Invest Dermatol. 2014 May;134(5):1456-1459. doi: 10.1038/jid.2013.496. Epub 2013 Nov 22. No abstract available. Erratum in: J Invest Dermatol. 2014 May;134(5). doi: 10.1038/jid.2014.136. J Invest Dermatol. 2014 Sep;134(9):2475.

30.

Systemic involvement in TREX1-associated familial chilblain lupus.

Günther C, Hillebrand M, Brunk J, Lee-Kirsch MA.

J Am Acad Dermatol. 2013 Oct;69(4):e179-81. doi: 10.1016/j.jaad.2013.04.020. No abstract available.

PMID:
24034389
31.

Epilepsy in Aicardi-Goutières syndrome.

Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA.

Eur J Paediatr Neurol. 2014 Jan;18(1):30-7. doi: 10.1016/j.ejpn.2013.07.005. Epub 2013 Sep 5.

PMID:
24011626
32.

Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.

Lee-Kirsch MA, Wolf C, Günther C.

Clin Exp Immunol. 2014 Jan;175(1):17-24. doi: 10.1111/cei.12160. Review.

33.

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.

Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JI, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA.

J Allergy Clin Immunol. 2013 Aug;132(2):371-7. doi: 10.1016/j.jaci.2013.01.057. Epub 2013 Apr 9.

PMID:
23582566
34.

Single-stranded nucleic acids promote SAMHD1 complex formation.

Tüngler V, Staroske W, Kind B, Dobrick M, Kretschmer S, Schmidt F, Krug C, Lorenz M, Chara O, Schwille P, Lee-Kirsch MA.

J Mol Med (Berl). 2013 Jun;91(6):759-70. doi: 10.1007/s00109-013-0995-3. Epub 2013 Jan 31.

PMID:
23371319
35.

Innate immune processes in lupus erythematosus.

Aringer M, Günther C, Lee-Kirsch MA.

Clin Immunol. 2013 Jun;147(3):216-22. doi: 10.1016/j.clim.2012.11.012. Epub 2012 Dec 12. Review.

PMID:
23290784
36.

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.

Hasan M, Koch J, Rakheja D, Pattnaik AK, Brugarolas J, Dozmorov I, Levine B, Wakeland EK, Lee-Kirsch MA, Yan N.

Nat Immunol. 2013 Jan;14(1):61-71. doi: 10.1038/ni.2475. Epub 2012 Nov 18.

37.

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

Tüngler V, Silver RM, Walkenhorst H, Günther C, Lee-Kirsch MA.

Br J Dermatol. 2012 Jul;167(1):212-4. doi: 10.1111/j.1365-2133.2012.10813.x. No abstract available.

PMID:
22356656
38.

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.

Ramantani G, Häusler M, Niggemann P, Wessling B, Guttmann H, Mull M, Tenbrock K, Lee-Kirsch MA.

J Child Neurol. 2011 Nov;26(11):1425-8. doi: 10.1177/0883073811408310. Epub 2011 Jun 13.

PMID:
21670392
39.

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T, Burger W, Schober E, Huebner A, Lee-Kirsch MA; Wolfram Syndrome Diabetes Writing Group.

Diabetes Care. 2011 Jul;34(7):1503-10. doi: 10.2337/dc10-1937. Epub 2011 May 20.

40.

Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.

Marenholz I, Rivera VA, Esparza-Gordillo J, Bauerfeind A, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA.

J Invest Dermatol. 2011 Aug;131(8):1644-9. doi: 10.1038/jid.2011.90. Epub 2011 Apr 14.

41.

Platelet function in obese children and adolescents.

Lohse J, Schweigel J, Naeke A, Lee-Kirsch MA, Siegert G, Bergmann S, Kuhlisch E, Suttorp M, Knöfler R.

Hamostaseologie. 2010 Nov;30 Suppl 1:S126-32.

PMID:
21042676
42.

Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.

Hauck F, Lee-kirsch MA, Aust D, Roesler J, Pessler F.

Arthritis Care Res (Hoboken). 2011 Mar;63(3):454-9. doi: 10.1002/acr.20361. No abstract available.

43.

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

Yan N, Regalado-Magdos AD, Stiggelbout B, Lee-Kirsch MA, Lieberman J.

Nat Immunol. 2010 Nov;11(11):1005-13. doi: 10.1038/ni.1941. Epub 2010 Sep 26.

44.

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E.

Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298.

PMID:
20648631
45.

Reconciling neuroimaging and clinical findings in Aicardi-Goutières syndrome: an autoimmune-mediated encephalopathy.

Ramantani G, Niggemann P, Bast T, Lee-Kirsch MA.

AJNR Am J Neuroradiol. 2010 Aug;31(7):E62-3; author reply E64. doi: 10.3174/ajnr.A2147. Epub 2010 Jun 25. No abstract available.

46.

Nucleic acid metabolism and systemic autoimmunity revisited.

Lee-Kirsch MA.

Arthritis Rheum. 2010 May;62(5):1208-12. doi: 10.1002/art.27372. No abstract available.

47.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA.

Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367.

48.

Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.

Liska F, Gosele C, Rivkin E, Tres L, Cardoso MC, Domaing P, Krejcí E, Snajdr P, Lee-Kirsch MA, de Rooij DG, Kren V, Krenová D, Kierszenbaum AL, Hubner N.

Biol Reprod. 2009 Dec;81(6):1196-205. doi: 10.1095/biolreprod.109.078980. Epub 2009 Aug 26. Erratum in: Biol Reprod. 2010 Apr;82(4):804. Rooij, Dirk G de [corrected to de Rooij, Dirk G].

49.

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

Günther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch MA.

Dermatology. 2009;219(2):162-6. doi: 10.1159/000222430. Epub 2009 May 28.

PMID:
19478477
50.

A common variant on chromosome 11q13 is associated with atopic dermatitis.

Esparza-Gordillo J, Weidinger S, Fölster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner N, Wahn U, Schreiber S, Franke A, Vogler R, Heath S, Baurecht H, Novak N, Rodriguez E, Illig T, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA, Ruether A.

Nat Genet. 2009 May;41(5):596-601. doi: 10.1038/ng.347. Epub 2009 Apr 6.

PMID:
19349984

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