Water channels (aquaporins) and their role for postnatal adaptation
In Cell and Tissue Research, 2004
... affinity purified antibodies against NKCC1 (1:1000, ADI, Texas), α-syntrophin (1:1000, Abcam, Cambridge, Mass., USA), and myosin VIIa (1:500, Abcam).
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
İzmir, Turkey. In Plos One, 2014
Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23).
Genetic predisposition to calcific aortic stenosis and mitral annular calcification.
Kemerovo, Russia. In Mol Biol Rep, 2014
A number of other polymorphisms, such as PvuII polymorphism within the ORα gene, rs1042636 polymorphism within the CaSR gene, rs3024491, rs3021094, rs1554286, and rs3024498 polymorphisms within the IL10 gene, rs662 polymorphism within the PON1 gene, rs2276288 polymorphism within the MYO7A gene, rs5194 polymorphism within the AGTR1 gene, rs2071307 polymorphism within the ELN gene, rs17659543 and rs13415097 polymorphisms within the IL1F9 gene may correlate with a risk of calcific valve stenosis with moderate level of evidence.
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Houston, United States. In Hum Mutat, 2011
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Hong Kong, Hong Kong. In Science, 2011
crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution; MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Rockville, United States. In Nat Genet, 2000
So far, 30 nonsyndromic recessive deafness loci have been mapped and the defective genes at 6 loci, DFNB1, DFNB2, DFNB3, DFNB4, DFNB9 and DNFB21, have been identified, encoding connexin-26 (ref.