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Pauline E. Schneeberger
University of Hamburg
Small nuclear RNATranscription (biology)RNA polymerase IIsnRNP7SK RNA
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#1Pauline E. Schneeberger (UHH: University of Hamburg)
#2Tatjana Bierhals (UHH: University of Hamburg)H-Index: 6
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
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In eukaryotes, the elongation phase of transcription by RNA polymerase II (RNAP II) is regulated by the transcription elongation factor b (P-TEFb), composed of Cyclin-T1 and cyclin-dependent kinase 9. The release of RNAP II is mediated by phosphorylation through P-TEFb that in turn is under control by the inhibitory 7SK small nuclear ribonucleoprotein (snRNP) complex. The 7SK snRNP consists of the 7SK non-coding RNA and the proteins MEPCE, LARP7, and HEXIM1/2. Biallelic LARP7 loss-of-function va...
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#1Christiane K. Bauer (UHH: University of Hamburg)H-Index: 22
#2Pauline E. Schneeberger (UHH: University of Hamburg)
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
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Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K+ channels, have been identified in subjects with ZLS and ZLS-like phenotype, respectively. We report de novo missense variants in KCNN3 in three individuals with typical clinical features of ZLS. KCNN3 (SK3/KCa2.3) constitutes one of ...
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