Late-onset hearing loss was not observed among preschool- aged children with prenatal Zika virus exposure: An analysis of the Microcephaly Epidemic Research Group Pediatric Cohort (2015-2019). [PDF]
Ramos DS+8 more
europepmc +1 more source
Neocortical neurogenesis: a proneural gene perspective
The neocortex is a mammalian‐specific brain region responsible for higher‐order cognitive functioning that shares fundamental similarities across species, but which is larger and more complex in humans. Proneural genes, encoding basic helix–loop–helix transcription factors (TFs), are evolutionarily conserved drivers of neurogenesis from fly to human ...
Lakshmy Vasan+3 more
wiley +1 more source
Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32
C. Ruth Jamieson+4 more
openalex +1 more source
Feingold Syndrome: Microcephaly, Esophageal Atresia, Type III Laryngeal Cleft, Malrotation, Limb Anomalies [PDF]
Thomas E. Herman, Marilyn J. Siegel
openalex +1 more source
Case Report: a novel homozygous <i>ASNS</i> variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy. [PDF]
Cheng S+7 more
europepmc +1 more source
ABSTRACT Swedish Warmblood horses (SWB) are bred for show jumping and/or dressage with young horse test scores as indicator traits. This study aimed to investigate possible candidate genes and regions of importance for evaluated and linearly scored young horse test traits.
Anahit Nazari‐Ghadikolaei+4 more
wiley +1 more source
Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings [PDF]
C. Geoffrey Woods+2 more
openalex +1 more source
Novel <i>KIF11</i> Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up. [PDF]
Yaskanich AH, Patel A, Leys M.
europepmc +1 more source
Abstract Fewer than 50 of the over 30,000 extant species of fishes have developed anatomical specializations facilitating endothermy in specific body regions. The plankton‐feeding basking shark (Cetorhinus maximus), traditionally classified as an ectotherm, was recently shown to have regionally endothermic traits such as centralized red muscle (RM ...
C. Antonia Klöcker+9 more
wiley +1 more source
Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures. [PDF]
Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Liu Z, He M, Luo X, Pan H, Mao X, Su J.
europepmc +2 more sources