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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Findings suggest that haploinsufficiency of STXBP1 causes early infantile epileptic encephalopathy with suppression-burst, and that a mutant form of the protein was significantly thermolabile compared to wild type.
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit
Heterozygous TGFBR2 mutations in Marfan syndrome
Results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders.
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
Findings suggest that pathological aggregation of alpha/beta spectrin heterodimers and abnormal AIS integrity resulting from SPTAN1 mutations were involved in pathogenesis of infantile epilepsy.
Molecular genetics of Marfan syndrome
A review of recent molecular genetics advances in Marfan syndrome and overlapping connective tissue disorders focuses on functional relation between fibrillin-1 and TGF-β signaling is discussed.
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
A 36‐week‐old fetus was referred to the medical center because of his cystic mass and fluid in left thoracic cavity, and was delivered by cesarean section to manage neonatal problems at 37 weeks of gestation, where it was revealed that the deletion was of paternal origin, and his parents did not carry 8p23.1 polymorphic inversion.
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
Results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.
SMOC1 is essential for ocular and limb development in humans and mice.
The findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice.
BAC array CGH reveals genomic aberrations in idiopathic mental retardation
The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPNs).
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
It is indicated that genetic heterogeneity exists in MFS and its related conditions and that regulation of TGFβ signaling plays a significant role in these disorders.