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Page 1
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.
Int J Mol Sci. 2021 Feb 11;22(4):1785. doi: 10.3390/ijms22041785.
Int J Mol Sci. 2021.
PMID: 33670118
Free PMC article.
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Eckl KM, Gruber R, Brennan L, Marriott A, Plank R, Moosbrugger-Martinz V, Blunder S, Schossig A, Altmüller J, Thiele H, Nürnberg P, Zschocke J, Hennies HC, Schmuth M.
Eckl KM, et al.
Front Genet. 2021 Jul 12;12:689940. doi: 10.3389/fgene.2021.689940. eCollection 2021.
Front Genet. 2021.
PMID: 34322157
Free PMC article.
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Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules.
Witting M, Molina M, Obst K, Plank R, Eckl KM, Hennies HC, Calderón M, Friess W, Hedtrich S.
Witting M, et al.
Nanomedicine. 2015 Jul;11(5):1179-87. doi: 10.1016/j.nano.2015.02.017. Epub 2015 Mar 16.
Nanomedicine. 2015.
PMID: 25791808
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Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S.
Ammann S, et al.
Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.
Blood. 2016.
PMID: 26744459
Free PMC article.
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Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D.
Hennies HC, et al. Among authors: eckl km.
Am J Hum Genet. 2004 Jul;75(1):138-45. doi: 10.1086/422219. Epub 2004 May 20.
Am J Hum Genet. 2004.
PMID: 15154116
Free PMC article.
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Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nürnberg P, Reis A, Hennies HC.
Eckl KM, et al.
Hum Genet. 2003 Jan;112(1):50-6. doi: 10.1007/s00439-002-0838-8. Epub 2002 Oct 19.
Hum Genet. 2003.
PMID: 12483299
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Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.
Pichler R, Stelzer C, Berg J, Holzinger C, Eckl KM, Hennies HC, Auböck J.
Pichler R, et al.
Arch Dermatol Res. 2005 Jun;296(12):585-7. doi: 10.1007/s00403-005-0566-8. Epub 2005 May 5.
Arch Dermatol Res. 2005.
PMID: 15875205
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