نتایج جستجو برای: connexin cx26

تعداد نتایج: 5395  

Journal: :The Journal of General Physiology 2008
Giedrius Kanaporis Gulistan Mese Laima Valiuniene Thomas W. White Peter R. Brink Virginijus Valiunas

Gap junction channels exhibit connexin dependent biophysical properties, including selective intercellular passage of larger solutes, such as second messengers and siRNA. Here, we report the determination of cyclic nucleotide (cAMP) permeability through gap junction channels composed of Cx43, Cx40, or Cx26 using simultaneous measurements of junctional conductance and intercellular transfer of c...

2000
Laurette Morlé Muriel Bozon Nicole Alloisio Philippe Latour Antoon Vandenberghe Henri Plauchu Lionel Collet Patrick Edery Jacqueline Godet Geneviève Lina-Granade

Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G→T mutation in GJB2 in all aVected members of a large family with late childhood onset of autosomal domina...

Journal: :Acta dermato-venereologica 2003
Ken Arita Masashi Akiyama Yukiko Tsuji Takashi Onozuka Hiroshi Shimizu

Erythrokeratoderma variabilis, characterized by migrating erythema and fixed keratotic plaques, is a rare congenital disorder which has recently been connected with connexin (Cx)30.3 or Cx31 gene mutations. We present a 9-month-old Japanese girl who exhibited the typical clinical features of the disease, but carried no Cx30.3 or Cx31 gene mutations. Histopathologically, regular acanthosis with ...

Journal: :American journal of physiology. Gastrointestinal and liver physiology 2001
T Kojima A Fort M Tao M Yamamoto D C Spray

Primary cultures of adult mouse hepatocytes are shown here to reexpress differentiated hepatocyte features following treatment with 2% DMSO and 10(-7) M glucagon. To examine the roles of gap junctional communication during hepatocyte growth and differentiation, we have compared treated and untreated hepatocytes from connexin (Cx)32-deficient [Cx32 knockout (KO)] and wild-type mice. In untreated...

Journal: :Disease models & mechanisms 2018
Sen Chen Le Xie Kai Xu Hai-Yan Cao Xia Wu Xiao-Xiang Xu Yu Sun Wei-Jia Kong

Mutations in the GJB2 gene [which encodes connexin 26 (Cx26)] are the most common causes of hereditary hearing loss in humans, and previous studies showed postnatal development arrest of the organ of Corti in different Cx26-null mouse models. To explore the pathological changes and the mechanism behind the cochlear abnormalities in these mice further, we established transgenic mouse models by c...

Journal: :British journal of pharmacology 2006
Thomas C Clarke Dafydd Thomas Jørgen S Petersen W Howard Evans Patricia E M Martin

We investigated the effects of rotigaptide (ZP123), a stable hexapeptide with antiarrhythmic properties, on gap junction mediated intercellular communication in contracting rat neonatal cardiac myocytes, HL-1 cells derived from cardiac atrium and in HeLa cells transfected with cDNA encoding Cx43-GFP, Cx32-GFP, Cx26-GFP, wild-type Cx43 or wild-type Cx26. Intercellular communication was monitored...

Journal: :Journal of medical genetics 1999
A Murgia E Orzan R Polli M Martella C Vinanzi E Leonardi E Arslan F Zacchello

Mutations in the gap junction protein connexin 26 (Cx26) gene (GJB2) seem to account for many cases of congenital sensorineural hearing impairment, the reported prevalence being 34-50% in autosomal recessive cases and 10-37% in sporadic cases. The hearing impairment in these patients has been described as severe or profound. We have studied 53 unrelated subjects with congenital non-syndromic se...

Journal: :Human molecular genetics 1997
F Denoyelle D Weil M A Maw S A Wilcox N J Lench D R Allen-Powell A H Osborn H H Dahl A Middleton M J Houseman C Dodé S Marlin A Boulila-ElGaïed M Grati H Ayadi S BenArab P Bitoun G Lina-Granade J Godet M Mustapha J Loiselet E El-Zir A Aubois A Joannard J Levilliers E N Garabédian R F Mueller R J Gardner C Petit

Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci have been identified for the recessive forms (DFNB loci). For two of them, DFNB1 and DFNB2, the genes responsible have been characterized; they encode connexin 26 and myosin VIIA, respectively. In order to evaluate t...

2013
Narongchai Autsavapromporn Sonia M. De Toledo Jean-Paul Jay-Gerin Andrew L. Harris Edouard I. Azzam

In multicellular organisms, intercellular communication is essential for homeostatic functions and has a major role in tissue responses to stress. Here, we describe the effects of expression of different connexins, which form gap junction channels with different permeabilities, on the responses of human cells to ionizing radiation. Exposure of confluent HeLa cell cultures to (137)Cs γ rays, 3.7...

Journal: :Investigative ophthalmology & visual science 1997
J M Wolosin M Schütte S Chen

PURPOSE To evaluate the distribution of different alpha- and beta-type connexins (Cx) present in the dual layered ciliary body epithelia (CBE) of both rabbit and rat. METHODS Immunocytochemical detection of Cx26, Cx32, Cx43, and Cx50 was performed on frozen sections of rabbit and rat ciliary body using indirect immunofluorescent methods. The identity of the antigens recognized by the monoclon...

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