1 - 25 of 63 results for author:"Hubner C." in Literature citations
Results Customize
› Repeat search in UniProtKB (12)
| Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina. Hilgen G., Huebner A.K., Tanimoto N., Sothilingam V., Seide C., Garrido M.G., Schmidt K.F., Seeliger M.W., Lowel S., Weiler R. et al. PLoS ONE 7:e46155-e46155(2012) · Mapped (12) |
| Extracellular ATP induces cytoplasmic and nuclear Ca2+ transients via P2Y2 receptor in human biliary epithelial cancer cells (Mz-Cha-1). Elsing C., Georgiev T., Hubner C.A., Boger R., Stremmel W., Schlenker T. Anticancer Res. 32:3759-3767(2012) · Mapped (3) |
| A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule. Hennings J.C., Picard N., Huebner A.K., Stauber T., Maier H., Brown D., Jentsch T.J., Vargas-Poussou R., Eladari D., Hubner C.A. EMBO Mol Med 4:1057-1071(2012) · Mapped (5) |
| Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning. Seja P., Schonewille M., Spitzmaul G., Badura A., Klein I., Rudhard Y., Wisden W., Hubner C.A., De Zeeuw C.I., Jentsch T.J. EMBO J. 31:1217-1230(2012) · Mapped (5) |
| The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Eckart M., Guenther U.P., Idkowiak J., Varon R., Grolle B., Boffi P., Van Maldergem L., Hubner C., Schuelke M., von Au K. Pediatrics 129:e148-56(2012) · Mapped (1) |
| Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Logan C.V., Lucke B., Pottinger C., Abdelhamed Z.A., Parry D.A., Szymanska K., Diggle C.P., Riesen A., Morgan J.E., Markham G. et al. Nat. Genet. 43:1189-1192(2011) · UniProtKB (1) |
| Enhanced Synaptic Activity and Epileptiform Events in the Embryonic KCC2 Deficient Hippocampus. Khalilov I., Chazal G., Chudotvorova I., Pellegrino C., Corby S., Ferrand N., Gubkina O., Nardou R., Tyzio R., Yamamoto S. et al. Front Cell Neurosci 5:23-23(2011) · Mapped (7) |
| Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. Koch D., Spiwoks-Becker I., Sabanov V., Sinning A., Dugladze T., Stellmacher A., Ahuja R., Grimm J., Schuler S., Muller A. et al. |
| K-Cl cotransporter gene expression during human and murine erythroid differentiation. Pan D., Kalfa T.A., Wang D., Risinger M., Crable S., Ottlinger A., Chandra S., Mount D.B., Hubner C.A., Franco R.S. et al. J. Biol. Chem. 286:30492-30503(2011) · Mapped (35) |
| Synaptic glutamate release is modulated by the Na+ -driven Cl-/HCO(3)⁻ exchanger Slc4a8. Sinning A., Liebmann L., Kougioumtzes A., Westermann M., Bruehl C., Hubner C.A. J. Neurosci. 31:7300-7311(2011) · Mapped (3) |
| Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Huebner A.K., Gandia M., Frommolt P., Maak A., Wicklein E.M., Thiele H., Altmuller J., Wagner F., Vinuela A., Aguirre L.A. et al. Am. J. Hum. Genet. 88:621-627(2011) · UniProtKB (1) |
| First HPSE2 missense mutation in urofacial syndrome. Mahmood S., Beetz C., Tahir M.M., Imran M., Mumtaz R., Bassmann I., Jahic A., Malik M., Nurnberg G., Hassan S.A. et al. Clin. Genet. 81:88-92(2012) · Mapped (4) |
| Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Lausch E., Janecke A., Bros M., Trojandt S., Alanay Y., De Laet C., Hubner C.A., Meinecke P., Nishimura G., Matsuo M. et al. |
| Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion. Martinelli C.E., Keogh J.M., Greenfield J.R., Henning E., van der Klaauw A.A., Blackwood A., O'Rahilly S., Roelfsema F., Camacho-Hubner C., Pijl H. et al. J. Clin. Endocrinol. Metab. 96:E181-8(2011) · Mapped (1) |
| The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice. Leviel F., Hubner C.A., Houillier P., Morla L., El Moghrabi S., Brideau G., Hassan H., Hatim H., Parker M.D., Kurth I. et al. J. Clin. Invest. 120:1627-1635(2010) · Mapped (14) |
| Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences. Domene H.M., Hwa V., Argente J., Wit J.M., Wit J.M., Camacho-Hubner C., Jasper H.G., Pozo J., van Duyvenvoorde H.A., Yakar S. et al. Horm. Res. 72:129-141(2009) · Mapped (3) |
| HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. Seifert W., Beninde J., Hoffmann K., Lindner T.H., Bassir C., Aksu F., Hubner C., Verbeek N.E., Mundlos S., Horn D. Eur. J. Hum. Genet. 17:1570-1576(2009) · Mapped (3) |
| The murine AE4 promoter predominantly drives type B intercalated cell specific transcription. Hentschke M., Hentschke S., Borgmeyer U., Hubner C.A., Kurth I. Histochem. Cell Biol. 132:405-412(2009) · Mapped (5) |
| Missense exchanges in the TTBK2 gene mutated in SCA11. Edener U., Kurth I., Meiner A., Hoffmann F., Hubner C.A., Bernard V., Gillessen-Kaesbach G., Zuhlke C. |
| Rdh12 activity and effects on retinoid processing in the murine retina. Chrispell J.D., Feathers K.L., Kane M.A., Kim C.Y., Brooks M., Khanna R., Kurth I., Hubner C.A., Gal A., Mears A.J. et al. J. Biol. Chem. 284:21468-21477(2009) · Mapped (13) |
| Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). Sarpong A., Schottmann G., Ruther K., Stoltenburg G., Kohlschutter A., Hubner C., Schuelke M. Clin. Genet. 76:38-45(2009) · Mapped (25) |
| Nhe1 is a luminal Na+/H+ exchanger in mouse choroid plexus and is targeted to the basolateral membrane in Ncbe/Nbcn2-null mice. Damkier H.H., Prasad V., Hubner C.A., Praetorius J. Am. J. Physiol., Cell Physiol. 296:C1291-300(2009) · Mapped (19) |
| Coexpression and heteromerization of two neuronal K-Cl cotransporter isoforms in neonatal brain. Uvarov P., Ludwig A., Markkanen M., Soni S., Hubner C.A., Rivera C., Airaksinen M.S. J. Biol. Chem. 284:13696-13704(2009) · Mapped (10) |
| NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development. Pfeffer C.K., Stein V., Keating D.J., Maier H., Rinke I., Rudhard Y., Hentschke M., Rune G.M., Jentsch T.J., Hubner C.A. J. Neurosci. 29:3419-3430(2009) · Mapped (13) |
| Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes. Savage M.O., David A., Camacho-Hubner C., Metherell L.A., Clark A.J. Endocr Dev 14:143-150(2009) · Mapped (7) |