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J. Christopher Hennings
J. Christopher Hennings
University Clinic Jena
在 med.uni-jena.de 的电子邮件经过验证
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引用次数
引用次数
年份
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
E Leipold, L Liebmann, GC Korenke, T Heinrich, S Gießelmann, J Baets, ...
Nature genetics 45 (11), 1399-1404, 2013
3212013
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
I Kurth, T Pamminger, JC Hennings, D Soehendra, AK Huebner, ...
Nature genetics 41 (11), 1179-1181, 2009
2462009
NKX6 transcription factor activity is required for α-andβ-cell development in the pancreas
KD Henseleit, SB Nelson, K Kuhlbrodt, JC Hennings, J Ericson, M Sander
Oxford University Press for The Company of Biologists Limited 132 (13), 3139 …, 2005
2322005
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
RE Varga, M Khundadze, M Damme, S Nietzsche, B Hoffmann, T Stauber, ...
PLoS genetics 11 (8), e1005454, 2015
1332015
Overexpression of pendrin in intercalated cells produces chloride-sensitive hypertension
T Jacques, N Picard, RL Miller, KA Riemondy, P Houillier, F Sohet, ...
Journal of the American Society of Nephrology 24 (7), 1104-1113, 2013
1072013
The ClC-K2 chloride channel is critical for salt handling in the distal nephron
JC Hennings, O Andrini, N Picard, M Paulais, AK Huebner, IKL Cayuqueo, ...
Journal of the American Society of Nephrology 28 (1), 209-217, 2017
1062017
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system
M Khundadze, K Kollmann, N Koch, C Biskup, S Nietzsche, G Zimmer, ...
PLoS genetics 9 (12), e1003988, 2013
1012013
Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures
E Ruusuvuori, AK Huebner, I Kirilkin, AY Yukin, P Blaesse, M Helmy, ...
The EMBO journal 32 (16), 2275-2286, 2013
912013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
K Koehler, M Malik, S Mahmood, S Gießelmann, C Beetz, JC Hennings, ...
The American Journal of Human Genetics 93 (4), 727-734, 2013
812013
Carbonic anhydrases CA4 and CA14 both enhance AE3-mediated Cl−–HCO3− exchange in hippocampal neurons
N Svichar, A Waheed, WS Sly, JC Hennings, CA Hübner, M Chesler
Journal of Neuroscience 29 (10), 3252-3258, 2009
812009
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule
JC Hennings, N Picard, AK Huebner, T Stauber, H Maier, D Brown, ...
EMBO molecular medicine 4 (10), 1057-1071, 2012
722012
Intercalated cell depletion and vacuolar H+-ATPase mistargeting in an Ae1 R607H Knockin model
R Mumtaz, F Trepiccione, JC Hennings, AK Huebner, B Serbin, N Picard, ...
Journal of the American Society of Nephrology 28 (5), 1507-1520, 2017
432017
Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
RA Husain, M Grimmel, M Wagner, JC Hennings, C Marx, RG Feichtinger, ...
The American Journal of Human Genetics 107 (2), 364-373, 2020
372020
Towards Raman spectroscopy of urine as screening tool
O Žukovskaja, O Ryabchykov, M Straßburger, T Heinekamp, AA Brakhage, ...
Journal of Biophotonics 13 (1), e201900143, 2020
192020
Molecular and functional characterization of Kv4. 2 and KChIP2 expressed in the porcine left ventricle
JH Schultz, T Volk, P Bassalaý, JC Hennings, CA Hübner, H Ehmke
Pflügers Archiv-European Journal of Physiology 454, 195-207, 2007
192007
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation
P Franzka, H Henze, MJ Jung, SC Schüler, S Mittag, K Biskup, ...
The Journal of clinical investigation 131 (9), 2021
182021
The Na+/H+ Exchanger Nhe1 Modulates Network Excitability via GABA Release
HT Bocker, T Heinrich, L Liebmann, JC Hennings, E Seemann, M Gerth, ...
Cerebral Cortex 29 (10), 4263-4276, 2019
132019
The murine Cl-/HCO3-exchanger Ae3 (Slc4a3) is not required for acid-base balance but is involved in magnesium handling by the kidney
NB Kampik, N Gehring, U Schnitzbauer, JC Hennings, CA Hübner, ...
Cellular Physiology and Biochemistry 34 (5), 1566-1577, 2014
112014
Mechanisms of hypotonic inhibition of the sodium, proton exchanger type 1 (NHE1) in a biliary epithelial cell line (Mz‐Cha‐1)
C Elsing, I Gosch, JC Hennings, CA Hübner, T Herrmann
Acta physiologica 190 (3), 199-208, 2007
112007
Disorders of renal NaCl transport and implications for blood pressure regulation
JC Hennings, CA Hübner
medizinische genetik 31 (1), 1-7, 2019
22019
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