T J Jentsch
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Explore the profile of T J Jentsch including associated specialties, affiliations and a list of published articles.
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110
Citations
7605
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Recent Articles
1.
Cid L, Jentsch T, Sepulveda F
J Physiol
. 2018 Apr;
596(12):2465-2466.
PMID: 29663391
No abstract available.
2.
Palmer E, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, et al.
Mol Psychiatry
. 2016 Aug;
23(2):222-230.
PMID: 27550844
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on...
3.
Hu H, Haas S, Chelly J, Van Esch H, Raynaud M, de Brouwer A, et al.
Mol Psychiatry
. 2015 Feb;
21(1):133-48.
PMID: 25644381
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number...
4.
Supanchart C, Wartosch L, Schlack C, Kuhnisch J, Felsenberg D, Fuhrmann J, et al.
Bone
. 2013 Oct;
58:92-102.
PMID: 24103576
Mutations in the 2Cl(-)/1H(+)-exchanger ClC-7 impair osteoclast function and cause different types of osteoclast-rich osteopetrosis. However, it is unknown to what extent ClC-7 function has to be reduced to become...
5.
Pauli-Magnus D, Hoch G, Strenzke N, Anderson S, Jentsch T, Moser T
Neuroscience
. 2007 Sep;
149(3):673-84.
PMID: 17869440
Sensorineural hearing loss (SNHL) comprises hearing disorders with diverse pathologies of the inner ear and the auditory nerve. To date, an unambiguous phenotypical characterization of the specific pathologies in an...
6.
Maritzen T, Rickheit G, Schmitt A, Jentsch T
Kidney Int
. 2006 May;
70(1):79-87.
PMID: 16672909
Mutations in ClC-5 cause Dent's disease, a disorder associated with low molecular weight proteinuria, hyperphosphaturia, and kidney stones. ClC-5 is a Cl(-)/H(+)-exchanger predominantly expressed in the kidney, where it facilitates...
7.
Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, et al.
Nature
. 2001 Dec;
414(6863):558-61.
PMID: 11734858
Renal salt loss in Bartter's syndrome is caused by impaired transepithelial transport in the loop of Henle. Sodium chloride is taken up apically by the combined activity of NKCC2 (Na+-K--2Cl-...
8.
Dedek K, Kunath B, Kananura C, Reuner U, Jentsch T, Steinlein O
Proc Natl Acad Sci U S A
. 2001 Sep;
98(21):12272-7.
PMID: 11572947
KCNQ2 and KCNQ3 are two homologous K(+) channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels. Loss-of-function mutations in either subunit can lead to...
9.
Betz R, Schoser B, Kasper D, Ricker K, Ramirez A, Stein V, et al.
Nat Genet
. 2001 Jun;
28(3):218-9.
PMID: 11431690
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25....
10.
Hubner C, Stein V, Hermans-Borgmeyer I, Meyer T, Ballanyi K, Jentsch T
Neuron
. 2001 Jun;
30(2):515-24.
PMID: 11395011
Synaptic inhibition by GABA(A) and glycine receptors, which are ligand-gated anion channels, depends on the electrochemical potential for chloride. Several potassium-chloride cotransporters can lower the intracellular chloride concentration [Cl(-)](i), including...