Scientific Publications | Max Delbrück Center

1701 Results:

Active Filter:

October 28, 2020 / J Genet Genomics

Phosphatidylinositol 4 kinase-β mutations cause non-syndromic sensorineural deafness and inner ear malformation

X. Su
Y. Feng
S.A. Rahman
S. Wu
G. Li
F. Rüschendorf
L. Zhao
H. Cui
J. Liang
L. Fang
H. Hu
S. Froehler
Y. Yu
G. Patone
O. Hummel
Q. Chen
K. Raile
F.C. Luft
S. Bähring
K. Hussain
W. Chen
J. Zhang
M. Gong

January 01, 2022 / J Invest Dermatol

Skin sodium accumulates in psoriasis and reflects disease severity

August 01, 2021 / Pflugers Arch

The (pro)renin receptor (ATP6ap2) facilitates receptor-mediated endocytosis and lysosomal function in the renal proximal tubule

M. Figueiredo
A. Daryadel
G. Sihn
D.N. Müller
E. Popova
A. Rouselle
G. Nguyen
M. Bader
C.A. Wagner

September 01, 2021 / Kidney Int Rep

Reduction of tissue Na(+) accumulation after renal transplantation

A. Dahlmann
P. Linz
I. Zucker
V. Haag
J. Jantsch
T. Dienemann
A.M. Nagel
P. Neubert
D. Rosenhauer
M. Rauh
S. Horn
D.N. Müller
M. Schiffer
F.C. Luft
M. Uder
C. Kopp

July 13, 2021 / Proc Natl Acad Sci U S A

Skin sodium is increased in male patients with multiple sclerosis and related animal models

K. Huhn
P. Linz
F. Pemsel
B. Michalke
S. Seyferth
C. Kopp
M.A. Chaudri
V. Rothhammer
A. Dörfler
M. Uder
A.M. Nagel
D.N. Müller
A. Waschbisch
D.H. Lee
T. Bäuerle
R.A. Linker
S. Haase

August 01, 2021 / Hum Genet

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

A.E. Volk
A. Hedergott
M. Preising
S. Rading
J. Fricke
P. Herkenrath
P. Nürnberg
J. Altmüller
S. von Ameln
B. Lorenz
A. Neugebauer
M. Karsak
C. Kubisch

December 01, 2021 / Nat Genet

Chromothripsis followed by circular recombination drives oncogene amplification in human cancer

C. Rosswog
C. Bartenhagen
A. Welte
Y. Kahlert
N. Hemstedt
W. Lorenz
M. Cartolano
S. Ackermann
S. Perner
W. Vogel
J. Altmüller
P. Nürnberg
F. Hertwig
G. Göhring
E. Lilienweiss
A.M. Stütz
J.O. Korbel
R.K. Thomas
M. Peifer
M. Fischer

February 01, 2022 / Nephrol Dial Transplant

Amiloride and calciuria

F.C. Luft
J. Sällström

October 01, 2021 / Neurogenetics

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

K. Kloth
B. Lozic
J. Tagoe
M.J.V. Hoffer
A. Van der Ven
H. Thiele
J. Altmüller
C. Kubisch
P.Y.B. Au
J. Denecke
E.K. Bijlsma
D. Lessel

November 01, 2021 / Genet Med

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies