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...
[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 ...
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 ...
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 ...
The observation of autistic symptoms in mice is another line of evidence that nonfunctional STX1A-variants rather cause a phenotype of autism and intellectual disability in humans. STX1A adopts at least two distinct conformations; a ‘closed’ inhibitory conformation in complex with STXBP1 (Fig. ...
1a, II-1) was the first child of healthy non-consanguineous Korean parents. The proband was born at full term and the perinatal histories were unremarkable. Early motor milestones were not delayed, and 1 year after her birth, she was able to walk. At 9 years of age, she first noticed ...
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-...
Long Homozygous Chromosomal Segments in Reference Families from the Centre d'E'tude du Polymorphisme Humain. Identifies long homozygous chromosomal segments in reference families from the Centre d'Etude du Polymorphisme Humain in Paris, France. Presence of heteroz... Broman,Karl,W.,... - 《Ameri...
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...
They are also important for patients presenting with non-specific clinical features, or who display complex phenotypes resulting from the co-occurrence of two or more rare diseases. In the case of parental inbreeding, the combined use of these techniques provides a homozygosity-by-descent mapping ...