Abstract Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5‐year‐old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia....
Mon Aug 03, 2020 16:29
Abstract Microcephalic osteodysplastic primordial dwarfism (MOPD) type II is a rare disorder characterized by skeletal dysplasia, severe proportionate short stature, insulin resistance and cerebrovascular abnormalities including cerebral aneurysms and moyamoya disease. MOPD type II is caused by mutations in the pericentrin (PCNT ) gene, which encodes a protein involved in centrosomes function. We report a 2 year old girl affected by MOPD type II caused by two compound heterozygous loss‐of‐function...
Mon Aug 03, 2020 16:23
Craniosynostosis‐microphthalmia linked to BCOR haploinsufficiency.
Mon Aug 03, 2020 19:09
Whole genome duplications (WGDs) have played a major role in angiosperm species evolution. Polyploid plants have undergone multiple cycles of ancient WGD events during their evolutionary history. However, little attention has been paid to the additional WGD of the existing allopolyploids. In this study, we explored the influences of additional WGD on the allopolyploid Brassica napus. Compared to tetraploid B. napus, octoploid B. napus (AAAACCCC, 2n = 8x =76) showed significant differences in phenotype,...
00:38
Despite over 100 years of study, the location of the fully sex-linked region of the guppy (Poecilia reticulata) carrying the male-determining locus, and the regions where the XY pair recombine, remain unclear. Previous population genomics studies to determine these regions used small samples from recently bottlenecked captive populations, which increase the false positive rate of associations between individuals' sexes and SNPs. Using new data from multiple natural populations, we show that a recently...
00:38
Publication date: Available online 3 August 2020Source: Gene Expression PatternsAuthor(s): Yam Prasad Aryal, Eui-Seon Lee, Tae-Young Kim, Shijin Sung, Ji-Youn Kim, Seo-Young An, Jae-Kwang Jung, Jung-Hong Ha, Jo-Young Suh, Hitoshi Yamamoto, Wern-Joo Sohn, Sung-Won Cho, Youngkyun Lee, Chang-Hyeon An, Jae-Young Kim
Tue Aug 04, 2020 17:16
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