نتایج جستجو برای: autosomal recessive primary microcephaly
تعداد نتایج: 682552 فیلتر نتایج به سال:
The most common cause of primary autosomal recessive microcephaly (MCPH) appears to be mutations in the ASPM gene which is involved in the regulation of neurogenesis. The predicted gene product contains two putative N-terminal calponin-homology (CH) domains and a block of putative calmodulin-binding IQ domains common in actin binding cytoskeletal and signaling proteins. Previous studies in mous...
PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE...
Centriole duplication occurs once per cell cycle, ensuring that each cell contains two centrosomes, each containing a mother-daughter pair of tightly engaged centrioles at mitotic entry. Loss of the tight engagement between mother and daughter centrioles appears to license the next round of centriole duplication. However, the molecular mechanisms regulating this process remain largely unknown. ...
background robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. case report we describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...
hallervorden-spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. the disease is caused by mutations in gene encoding pantothenate kinase 2 (pank2) and patients have pantothenate kinase-associated neurodegeneration. we present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of diffe...
We summarize all experimental studies of Bose-Einstein condensation (BEC) in dilute atomic gases reported thus far and discuss the experimental techniques used to produce, manipulate and observe nanokelvin samples of atoms.
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