This nonreference assembly allele was homozygous in the affected dog, has not previously been reported in dbSNP, and was absent from the whole genome sequences of 45 control dogs and 31 unaffected Cane Corsos. Our findings indicate a novel mutation causing theCLN1 form ofNCLin a previously ...
[25] reported that DNAH9 variants can result in non-syndromic severe asthenospermia without PCD-related symptoms. Based on this, MMAF may be another form of classical PCD [6]. Second, according to animal models, the process of flagella formation is not identical to that of cilia. For ...
Noncoding deletions, identified through analyses like those presented here, may provide an important foothold to begin to understand the role of patterned gene activation/regulation in cognitive and social function. ASD as a diagnosis appears to be especially sensitive to gene dosage, given well-estab...
WES was performed for the proband (IV-3) and her parents, as described previously25. Filtration of the identified variants was performed by the DNA diagnostic expert laboratory at GeneDx considering all patterns of inheritance26. Only pathogenic, likely pathogenic, and non-synonymous (NS) variants ...
Size and weight was normal at birth but severely reduced by the age of 11 years (size 1.24 m, according to < 1. percentile and weight 33 kg, according to the 22. percentile of age-related WHO reference values, respectively). Electroneurographic and myographic measurements at ...
Building on this finding in primary tumors, our data strongly suggest that the abundance of non-malignant MTAP wild-type (WT) stromal cells metabolize the secreted MTA from the homozygous MTAP-deleted GBM cells. As the promise of synthetic therapies that are lethal against homozygous MTAP-...
Conclusions our findings expand the understanding of genetic defects in the SPAG6 gene, which is a potential pathogenic factor for syndromic severe asthenozoospermia, such as PCD, and also for non-syndromic asthenoteratozoospermia with the MMAF phenotype. ICSI is recommended as an optimal ...
Frequent homozygous deletion of the LKB1/STK11 gene in non-small cell lung cancer LKB1/STK11 is a tumor suppressor and a negative regulator of mammalian target of rapamycin signaling. It is inactivated in 30% of lung cancer cell lines bu... RK Gill,SH Yang,D Meerzaman,... - 《Oncogene...
All reference sequences were based on the NCBI37/hg19 assembly of the human genome. To confirm the two variants identified by next-generation sequencing, the exon 9 of GNPTAB was amplified with forward primer 5′-CAGACGGGCAGAAGGAAAGG-3′ and reverse primer 5′-GCCTGATATTTGACTACAGTAGT-3′...
The effect of the non-synonymous variant in TUB (c.1379A > G, p.Asn460Ser) was predicted to be deleterious by PROVEAN with a score of -4.193 (a score ≤ -2.5 is considered deleterious) and damaging by SIFT with a score of 0.035 (a score of 0–0.05 is considered damaging...