Genetics and signaling mechanisms of orofacial clefts
Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …
Genetic advances in craniosynostosis
W Lattanzi, M Barba, L Di Pietro… - American journal of …, 2017 - Wiley Online Library
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and
genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live …
genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live …
Whole-genome sequencing of native sheep provides insights into rapid adaptations to extreme environments
Global climate change has a significant effect on extreme environments and a profound
influence on species survival. However, little is known of the genome-wide pattern of …
influence on species survival. However, little is known of the genome-wide pattern of …
Shared heritability of human face and brain shape
Evidence from model organisms and clinical genetics suggests coordination between the
developing brain and face, but the role of this link in common genetic variation remains …
developing brain and face, but the role of this link in common genetic variation remains …
Donkey genomes provide new insights into domestication and selection for coat color
Current knowledge about the evolutionary history of donkeys is still incomplete due to the
lack of archeological and whole-genome diversity data. To fill this gap, we have de novo …
lack of archeological and whole-genome diversity data. To fill this gap, we have de novo …
DNA-guided transcription factor cooperativity shapes face and limb mesenchyme
Transcription factors (TFs) can define distinct cellular identities despite nearly identical DNA-
binding specificities. One mechanism for achieving regulatory specificity is DNA-guided TF …
binding specificities. One mechanism for achieving regulatory specificity is DNA-guided TF …
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses
Background Modern horses represent heterogeneous populations specifically selected for
appearance and performance. Genomic regions under high selective pressure show …
appearance and performance. Genomic regions under high selective pressure show …
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral
extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism …
extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism …
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Dun is a wild-type coat color in horses characterized by pigment dilution with a striking
pattern of dark areas termed primitive markings. Here we show that pigment dilution in Dun …
pattern of dark areas termed primitive markings. Here we show that pigment dilution in Dun …
Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
The timing of puberty is highly variable and is associated with long-term health outcomes. To
date, understanding of the genetic control of puberty timing is based largely on studies in …
date, understanding of the genetic control of puberty timing is based largely on studies in …