Genetics of combined pituitary hormone deficiency: roadmap into the genome era

Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

[HTML][HTML] The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data

E Van Otterloo, T Williams, KB Artinger - Developmental biology, 2016 - Elsevier
The craniofacial skeletal structures that comprise the human head develop from multiple
tissues that converge to form the bones and cartilage of the face. Because of their complex …

High-resolution epigenomic atlas of human embryonic craniofacial development

A Wilderman, J VanOudenhove, J Kron, JP Noonan… - Cell reports, 2018 - cell.com
Defects in patterning during human embryonic development frequently result in craniofacial
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …

SpatialDB: a database for spatially resolved transcriptomes

Z Fan, R Chen, X Chen - Nucleic acids research, 2020 - academic.oup.com
Spatially resolved transcriptomic techniques allow the characterization of spatial
organization of cells in tissues, which revolutionize the studies of tissue function and disease …

Integrating gene regulatory pathways into differential network analysis of gene expression data

T Grimes, SS Potter, S Datta - Scientific reports, 2019 - nature.com
The advent of next-generation sequencing has introduced new opportunities in analyzing
gene expression data. Research in systems biology has taken advantage of these …

The molecular anatomy of mammalian upper lip and primary palate fusion at single cell resolution

H Li, KL Jones, JE Hooper, T Williams - Development, 2019 - journals.biologists.com
The mammalian lip and primary palate form when coordinated growth and morphogenesis
bring the nasal and maxillary processes into contact, and the epithelia co-mingle, remodel …

An internal deletion of ADAR rescued by MAVS deficiency leads to a minute phenotype

P Bajad, F Ebner, F Amman, B Szabó… - Nucleic acids …, 2020 - academic.oup.com
The RNA-editing protein ADAR is essential for early development in the mouse. Genetic
evidence suggests that A to I editing marks endogenous RNAs as 'self'. Today, different Adar …

Neural crest and the origin of species‐specific pattern

RA Schneider - Genesis, 2018 - Wiley Online Library
For well over half of the 150 years since the discovery of the neural crest, the special ability
of these cells to function as a source of species‐specific pattern has been clearly …

Single-cell transcriptional profiling: a window into embryonic cell-type specification

B Pijuan-Sala, C Guibentif, B Göttgens - Nature reviews Molecular cell …, 2018 - nature.com
During mammalian embryonic development, a single fertilized egg cell will proliferate and
differentiate into all the cell lineages and cell types that eventually form the adult organism …

[HTML][HTML] Neural crest-mediated bone resorption is a determinant of species-specific jaw length

EL Ealba, AH Jheon, J Hall, C Curantz, KD Butcher… - Developmental …, 2015 - Elsevier
Precise control of jaw length during development is crucial for proper form and function.
Previously we have shown that in birds, neural crest mesenchyme (NCM) confers species …