ASPM mutations derail human neural stem cells and explain microcephaly sensitivity
Human cortical organoids show that ASPM mutations prematurely displace and impair the specification of outer radial glia cells, explaining why ...
Tag: microcephaly
Novel SEMA3E Frameshift Variant Linked to CHARGE-Like Features in Child
A one-year-old boy with CHARGE-like features carried a novel de novo SEMA3E frameshift variant predicted to truncate the protein within ...
Rare Ring Chromosome 7 Case Links Severe Hypertriglyceridemia to Genetic Syndrome
A case report describes a 14-year-old girl with ring chromosome 7 syndrome whose severe hypertriglyceridemia and mild echocardiographic findings may ...
Novel EEF1D Splice Variant Behind Severe Neurodevelopmental Disorder in Iranian Siblings
Whole exome sequencing in a consanguineous Iranian family has identified a novel homozygous splice junction loss variant in EEF1D in ...
Seven-year follow-up documents partial chromosome 19p duplication
A seven-year case study of a prenatal 19p13.3–p13.2 duplication found persistent developmental and growth problems alongside variable effects on hearing, ...
Clinical findings in 22 Turkish boys with MECP2 variants
A multicenter study of 22 Turkish boys found varied clinical presentations among MECP2 variants, but uncertain classifications and conflicting functional ...
Preterm Babies in Vietnam Face Rising Developmental Delay Risk in First Year, Study Finds
A prospective cohort study in Ho Chi Minh City found that nearly two-thirds of very and extremely preterm infants showed ...
New Atlas Maps the Gene Networks That Build the Human Brain
Researchers at the University of Wisconsin–Madison have built a cross-species atlas of gene regulatory networks governing early mammalian neurogenesis, revealing ...
Scientists Propose Framework to Test Whether Oropouche Virus Harms Fetuses
Researchers propose a combined experimental and epidemiological framework to determine whether Oropouche virus can cause vertical transmission and adverse fetal ...
Tiniest of moments proves key for baby’s healthy brain
University of Virginia School of Medicine researchers have shed new light on how our brains develop, revealing that the very ...
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ASPM mutations derail human neural stem cells and explain microcephaly sensitivity