Shaping faces: genetic and epigenetic control of craniofacial morphogenesis

L Selleri, FM Rijli - Nature Reviews Genetics, 2023 - nature.com
Major differences in facial morphology distinguish vertebrate species. Variation of facial
traits underlies the uniqueness of human individuals, and abnormal craniofacial …

Loss of extreme long-range enhancers in human neural crest drives a craniofacial disorder

HK Long, M Osterwalder, IC Welsh, K Hansen… - Cell Stem Cell, 2020 - cell.com
Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene
result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a …

'Building a perfect body': control of vertebrate organogenesis by PBX-dependent regulatory networks

L Selleri, V Zappavigna, E Ferretti - Genes & development, 2019 - genesdev.cshlp.org
Pbx genes encode transcription factors that belong to the TALE (three-amino-acid loop
extension) superclass of homeodomain proteins. We have witnessed a surge in information …

PBX1 is a valuable prognostic biomarker for patients with breast cancer

X Ao, W Ding, H Ge, Y Zhang… - Experimental and …, 2020 - spandidos-publications.com
Pre-B-cell leukemia transcription factor (PBX) proteins have important roles in the
development of numerous organs. To date, four members of the PBX family have been …

Adaptive introgression reveals the genetic basis of a sexually selected syndrome in wall lizards

N Feiner, W Yang, I Bunikis, GM While, T Uller - Science Advances, 2024 - science.org
The joint expression of particular colors, morphologies, and behaviors is a common feature
of adaptation, but the genetic basis for such “phenotypic syndromes” remains poorly …

Critical role of the BAF chromatin remodeling complex during murine neural crest development

KW Bi-Lin, PV Seshachalam, T Tuoc, A Stoykova… - PLoS …, 2021 - journals.plos.org
The BAF complex plays an important role in the development of a wide range of tissues by
modulating gene expression programs at the chromatin level. However, its role in neural …

A Mutation in VWA1, Encoding von Willebrand Factor A Domain-Containing Protein 1, Is Associated With Hemifacial Microsomia

Y Wang, L Ping, X Luan, Y Chen, X Fan, L Li… - Frontiers in Cell and …, 2020 - frontiersin.org
Background Hemifacial microsomia (HFM) is a type of rare congenital syndrome caused by
developmental disorders of the first and second pharyngeal arches that occurs in one out of …

A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2

M Losa, I Barozzi, M Osterwalder… - Nature …, 2023 - nature.com
A lingering question in developmental biology has centered on how transcription factors with
widespread distribution in vertebrate embryos can perform tissue-specific functions. Here …

Dissecting mechanisms of chamber-specific cardiac differentiation and its perturbation following retinoic acid exposure

DM Gonzalez, N Schrode, TAM Ebrahim… - …, 2022 - journals.biologists.com
The specification of distinct cardiac lineages occurs before chamber formation and
acquisition of bona fide atrial or ventricular identity. However, the mechanisms underlying …

[HTML][HTML] Diagnostic gene panel testing in (non)-syndromic patients with cleft lip, alveolus and/or palate in the Netherlands

LF Wurfbain, IL Cox, MF Van Dooren… - Molecular …, 2023 - karger.com
Objectives: Clefts of the lip, alveolus and/or palate (CLA/P) are the most common
craniofacial congenital malformations in humans. These oral clefts can be divided into non …