منابع مشابه
Evolving networks through deletion and duplication
We introduce a minimalistic model based on dynamic node deletion and node duplication with heterodimerisation. The model is intended to capture the essential features of the evolution of protein interaction networks. We derive an exact two-step rate equation to describe the evolution of the degree distribution. We present results for the case of a fixed-size network. The results are based on th...
متن کاملEpilepsies in Children with 2q24.3 Deletion/Duplication
More than 100 cases of deletions or duplications of the long arm of chromosome 2 have been reported. Deletion and duplication ranges vary markedly among individual patients. The relationship between range of deletion/duplication and phenotype is not well understood, although seizures and facial dysmorphism are observed commonly in patients with 2q21q31 deletions. Array comparative genomic hybri...
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With only twenty reported cases, features of the rare 14q terminal deletion syndrome include developmental disabilities, microcephaly, growth delay, hypotonia and varied dysmorphisms [1-4]. Ophthalmologic, cardiac, neural, renal and genitourinary anomalies are associated [5,6]. Rare features include limb anomalies, recurrent otitis media and seizure disorder [1,6]. In contrast to 14q terminal d...
متن کاملOpposing brain differences in 16p11.2 deletion and duplication carriers.
Deletions and duplications of the recurrent ~600 kb chromosomal BP4-BP5 region of 16p11.2 are associated with a broad variety of neurodevelopmental outcomes including autism spectrum disorder. A clue to the pathogenesis of the copy number variant (CNV)'s effect on the brain is that the deletion is associated with a head size increase, whereas the duplication is associated with a decrease. Here ...
متن کاملA Family Harboring CMT1A Duplication and HNPP Deletion
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A a...
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ژورنال
عنوان ژورنال: Current Opinion in Genetics & Development
سال: 2021
ISSN: 0959-437X
DOI: 10.1016/j.gde.2021.01.013