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Scientific Publications

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/ Hypertension

KCNQ5 controls perivascular adipose tissue–mediated vasodilation

  • D. Tsvetkov
  • J. Schleifenbaum
  • Y. Wang
  • M. Kassmann
  • M.M. Polovitskaya
  • M. Ali
  • S. Schütze
  • M. Rothe
  • F.C. Luft
  • T.J. Jentsch
  • M. Gollasch
/ Sci Adv

Molecular basis of ClC-6 function and its impairment in human disease

  • B. Zhang
  • S. Zhang
  • M.M. Polovitskaya
  • J. Yi
  • B. Ye
  • R. Li
  • X. Huang
  • J. Yin
  • S. Neuens
  • T. Balfroid
  • J. Soblet
  • D. Vens
  • A. Aeby
  • X. Li
  • J. Cai
  • Y. Song
  • Y. Li
  • M. Tartaglia
  • Y. Li
  • T.J. Jentsch
  • M. Yang
  • Z. Liu
/ Cell Rep

Structural insights into anion selectivity and activation mechanism of LRRC8 volume-regulated anion channels

  • H. Liu
  • M.M. Polovitskaya
  • L. Yang
  • M. Li
  • H. Li
  • Z. Han
  • J. Wu
  • Q. Zhang
  • T.J. Jentsch
  • J. Liao
/ Cell Tissue Res

LRP2 contributes to planar cell polarity-dependent coordination of motile cilia function

  • L. Bunatyan
  • A. Margineanu
  • C. Boutin
  • M. Montcouquiol
  • S. Bachmann
  • E.I. Christensen
  • T.E. Willnow
  • A. Christ
/ Sci Adv

Gating choreography and mechanism of the human proton-activated chloride channel ASOR

  • C. Wang
  • M.M. Polovitskaya
  • B.D. Delgado
  • T.J. Jentsch
  • S.B. Long
/ Front Mol Neurosci

An expanded polyproline domain maintains mutant huntingtin soluble in vivo and during aging

  • M.L. Pigazzini
  • M. Lawrenz
  • A. Margineanu
  • G.S. Kaminski Schierle
  • J. Kirstein
/ Nature

Quantitative lineage analysis identifies a hepato-pancreato-biliary progenitor niche

  • D. Willnow
  • U. Benary
  • A. Margineanu
  • M.L. Vignola
  • F. Konrath
  • I.M. Pongrac
  • Z. Karimaddini
  • A. Vigilante
  • J. Wolf
  • F.M. Spagnoli
/ Am J Hum Genet

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

  • A.R. Duncan
  • M.M. Polovitskaya
  • H. Gaitán-Peñas
  • S. Bertelli
  • G.E. VanNoy
  • P.E. Grant
  • A. O'Donnell-Luria
  • Z. Valivullah
  • A.K. Lovgren
  • E.M. England
  • E. Agolini
  • J.A. Madden
  • K. Schmitz-Abe
  • A. Kritzer
  • P. Hawley
  • A. Novelli
  • P. Alfieri
  • G.S. Colafati
  • D. Wieczorek
  • K. Platzer
  • J. Luppe
  • M. Koch-Hogrebe
  • R. Abou Jamra
  • J. Neira-Fresneda
  • A. Lehman
  • C.F. Boerkoel
  • K. Seath
  • L. Clarke
  • Y. van Ierland
  • E. Argilli
  • E.H. Sherr
  • A. Maiorana
  • T. Diel
  • M. Hempel
  • T. Bierhals
  • R. Estévez
  • T.J. Jentsch
  • M. Pusch
  • P.B. Agrawal
/ Genome Biol

A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion

  • F. Witte
  • J. Ruiz-Orera
  • C. Ciolli Mattioli
  • S. Blachut
  • E. Adami
  • J.F. Schulz
  • V. Schneider-Lunitz
  • O. Hummel
  • G. Patone
  • M.B. Mücke
  • Jan Šilhavý
  • M. Heinig
  • L. Bottolo
  • D. Sanchis
  • M. Vingron
  • M. Chekulaeva
  • M. Pravenec
  • N. Hubner
  • S. van Heesch
/ Am J Hum Genet

A recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H+-exchanger, causes early-onset neurodegeneration

  • M.M. Polovitskaya
  • C. Barbini
  • D. Martinelli
  • F.L. Harms
  • F.S. Cole
  • P. Calligari
  • G. Bocchinfuso
  • L. Stella
  • A. Ciolfi
  • M. Niceta
  • T. Rizza
  • M. Shinawi
  • K. Sisco
  • J. Johannsen
  • J. Denecke
  • R. Carrozzo
  • D.J. Wegner
  • K. Kutsche
  • M. Tartaglia
  • T.J. Jentsch