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DNAH11 encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. Zusätzlich bieten wir Ihnen DNAH11 Antikörper (24) und DNAH11 Kits (5) und viele weitere Produktgruppen zu diesem Protein an.
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Dnah11(avc)(4) did not disrupt SHF (zeige SHF Proteine) Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1 (zeige MKS1 Proteine)(avc)(6) disrupted SHF (zeige SHF Proteine) Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans
DNAH11 mutations result in a subtle outer dynein arm defect in only the proximal region of respiratory cilia.
In an epithelial cell line engineered to contain the DNAH11 target site, TALENs cleaved over 80% of the mutated DNAH11 sequence and replaced the mutated sequence with wild-type sequence in about 50% of cells. This study demonstrates that gene editing can rescue ciliary beating ex vivo, opening up new avenues for treating Primary ciliary dyskinesia.
Mutations in DNAH11 are a common cause of PCD in patients without ciliary ultrastructural defects; thus, genetic analysis can be used to ascertain the diagnosis of PCD in this challenging group of patients.
mutations: splice site in acceptor splice site of exon 5 and nonsense mutation located in exon 23 for DNAH11 in primary ciliary dyskinesia
mutations in the DNAH11 gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
Dynein plays an unexpected role in the regulation of mitochondrial morphology in living cells, by controlling the recruitment of Drp1 (zeige CRMP1 Proteine) to these organelles.
a specific requirement for p150(Glued (zeige DCTN1 Proteine))/dynein/functional microtubules in activation of MKK3 (zeige MAP2K3 Proteine)/6 and p38 (zeige CRK Proteine) MAPKs in vivo.
These findings support the view that DNAH11 mutations indeed cause Primary ciliary dyskinesia and Kartagener syndrome, and that the reported DNAH11 nonsense mutations are associated with a normal axonemal ultrastructure.
Two "major" genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects
These data unveil a previously unrecognized role for the dynein-dynactin (zeige DCTN1 Proteine) motor complex in osteoclast formation and function.
work supports the claim that LRD functions in a mechanism for selective chromatid segregation
This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility.
axonemal beta dynein heavy chain 11
, axonemal dynein heavy chain 11
, ciliary dynein heavy chain 11
, dynein heavy chain 11, axonemal
, dynein, axonemal, heavy polypeptide 11
, dynein, ciliary, heavy chain 11
, dynein, axon, heavy chain 11
, situs inversus viscerum
, dynein, axonemal, heavy chain 11
, dynein heavy chain Bv1
, dynein heavy chain 11, axonemal-like
, hypothetical protein LOC472305