Epigenetic Regulation of Gene Transcription

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31.01.2022

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures

Authors Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 Jan 31:ddab373. Abstract Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency, and
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26.01.2022

Real-time radial tagging for quantification of left ventricular torsion

Authors Mohammadi E, Nasiraei-Moghaddam A, Uecker M Journal Magnetic Resonance in Medicine Citation Magn Reson Med. 2022 Jan 26. Abstract Purpose: To develop a real-time radial tagging MRI for accurate measurement of rotational motion and twist of the left ventricle (LV). Methods: A FLASH-based radial tagging sequence with an undersampled
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11.01.2022

The RNA methyltransferase METTL8 installs m3C32 modifications in mitochondrial tRNAThr/Ser(UCN) to optimise tRNA structure and translation

Authors Kleiber N, Lemus-Diaz N, Siller C, Heinrichs M, Mai MMQ, Hackert P, Richter-Dennerlein R, Höbartner C, Bohnsack KE, Bohnsack MT Journal Nature Communications Citation Nat Commun 13, 209 (2022). Abstract Modified nucleotides in tRNAs are important determinants of folding, structure and function. Here we identify METTL8 as a mitochondrial
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04.01.2022

Postnatal expression of the lysine methyltransferase SETD1B is essential for learning and the regulation of neuron‐enriched genes

Authors Michurina A, Sakib S, Kerimoglu C, Krüger DM, Kaurani L, Islam R, Joshi PD, Schröder S, Centeno TP, Zhou J, Pradhan R, Cha J, Xu X, Eichele G, Zeisberg EM, Kranz A, Stewart FA, Fischer A Journal EMBO Journal Citation EMBO J. 2022 Jan 4; 41(1): e106459. Abstract In
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11.10.2021

A microRNA signature that correlates with cognition and is a target against cognitive decline

Authors Islam MR, Kaurani L, Berulava T, Heilbronner U, Budde M, Centeno TP, Elerdashvili V, Zafieriou MP, Benito E, Sertel SM, Goldberg M, Senner F, Kalman JL, Burkhardt S, Oepen AS, Sakib MS, Kerimolgu C, Wirths O, Bickeböller H, Bartels C, Brosseron F, Buerger K, Cosma NC, Fliessbach K, Heneka
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11.10.2021

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Authors Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B Journal European Journal of Human Genetics Citation Eur J Hum Genet. 2021 Oct 11. Abstract Variants in transcription factor p63 have been linked to several autosomal dominantly
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20.09.2021

Biallelic variants in YRDC cause a developmental disorder with progeroid features

Authors Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B Journal
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13.08.2021

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease

Authors Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A Journal European Journal of Medical Genetics Citation Eur J Med Genet. 2021 Aug 13:104310. Abstract MFSD2A,
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13.08.2021

Impaired Exercise Tolerance in Repaired Tetralogy of Fallot Is Associated With Impaired Biventricular Contractile Reserve: An Exercise-Stress Real-Time Cardiovascular Magnetic Resonance Study

Authors Steinmetz M, Stümpfig T, Seehase M, Schuster A, Kowallick J, Müller M, Unterberg-Buchwald C, Kutty S, Lotz J, Uecker M, Paul T Journal Circulation: Cardiovascular Imaging Citation Circ Cardiovasc Imaging. 2021 Aug;14(8):e011823. Abstract Background: Correction of tetralogy of Fallot (cTOF) often results in pulmonary valve pathology and right ventricular
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15.07.2021

Conditional Loss of BAF (mSWI/SNF) Scaffolding Subunits Affects Specification and Proliferation of Oligodendrocyte Precursors in Developing Mouse Forebrain

Authors Abbas E, Hassan MA, Sokpor G, Kiszka K, Pham L, Kerimoglu C,  Fischer A, Nguyen HP, Staiger JF, Tuoc  T Journal Frontiers in Cell and Developmental Biology Citation Front Cell Dev Biol. 2021 Jul 15;9:619538. Abstract Oligodendrocytes are responsible for axon myelination in the brain and spinal cord. Generation
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