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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: zechner u. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: zechner u. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
Elgaz S, Wittekindt B, Esmaeili A, Fischer S, Bolz HJ, Zechner U, Buxmann H. Elgaz S, et al. Among authors: zechner u. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006213. doi: 10.1101/mcs.a006213. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307213 Free PMC article.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, Rehm HL, McLaughlin H, Bolz HJ, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R. Zhang Y, et al. Among authors: zechner u. Hum Mol Genet. 2021 Nov 16;30(23):2300-2314. doi: 10.1093/hmg/ddab192. Hum Mol Genet. 2021. PMID: 34245260 Free PMC article.
Lipid presentation by the protein C receptor links coagulation with autoimmunity.
Müller-Calleja N, Hollerbach A, Royce J, Ritter S, Pedrosa D, Madhusudhan T, Teifel S, Meineck M, Häuser F, Canisius A, Nguyen TS, Braun J, Bruns K, Etzold A, Zechner U, Strand S, Radsak M, Strand D, Gu JM, Weinmann-Menke J, Esmon CT, Teyton L, Lackner KJ, Ruf W. Müller-Calleja N, et al. Among authors: zechner u. Science. 2021 Mar 12;371(6534):eabc0956. doi: 10.1126/science.abc0956. Science. 2021. PMID: 33707237 Free PMC article.
CpG islands in MyD88 and ASC/PYCARD/TMS1 promoter regions are differentially methylated in head and neck squamous cell carcinoma and primary lung squamous cell carcinoma.
Šutić M, Baranašić J, Bilić LK, Bilić M, Jakovčević A, Brčić L, Seiwerth S, Jakopović M, Samaržija M, Zechner U, Knežević J. Šutić M, et al. Among authors: zechner u. Diagn Pathol. 2021 Feb 26;16(1):17. doi: 10.1186/s13000-021-01078-3. Diagn Pathol. 2021. PMID: 33637109 Free PMC article.
130 results