[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery

GA Vega-Lopez, S Cerrizuela, C Tribulo… - Developmental biology, 2018 - Elsevier
The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

[HTML][HTML] Gli proteins: regulation in development and cancer

P Niewiadomski, SM Niedziółka, Ł Markiewicz… - Cells, 2019 - mdpi.com
Gli proteins are transcriptional effectors of the Hedgehog signaling pathway. They play key
roles in the development of many organs and tissues, and are deregulated in birth defects …

Hedgehog signal and genetic disorders

N Sasai, M Toriyama, T Kondo - Frontiers in Genetics, 2019 - frontiersin.org
The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …

Clinical genetics of polydactyly: an updated review

M Umair, F Ahmad, M Bilal, W Ahmad… - Frontiers in genetics, 2018 - frontiersin.org
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb
anomaly characterized by extra fingers or toes, with various associated morphologic …

[HTML][HTML] A review of polydactyly and its inheritance: connecting the dots

DK Bubshait - Medicine, 2022 - journals.lww.com
Objective: This study collects what is known about the inheritance underpinnings of
syndromic and non-syndromic polydactylies and highlights dactyly presentations with …

Role of GLI transcription factors in pathogenesis and their potential as new therapeutic targets

M Sabol, D Trnski, V Musani, P Ozretić… - International journal of …, 2018 - mdpi.com
GLI transcription factors have important roles in intracellular signaling cascade, acting as the
main mediators of the HH-GLI signaling pathway. This is one of the major developmental …

Genetic overview of postaxial polydactyly: updated classification

Z Ahmad, R Liaqat, O Palander, M Bilal, S Zeb… - Clinical …, 2023 - Wiley Online Library
Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with
various morphologic phenotypes. Apart from physical and functional impairments, the …

[HTML][HTML] Paternal preconception phthalate exposure alters sperm methylome and embryonic programming

OA Oluwayiose, C Marcho, H Wu, E Houle… - Environment …, 2021 - Elsevier
Preconception environmental conditions have been demonstrated to shape sperm
epigenetics and subsequently offspring health and development. Our previous findings in …

Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome

A Palencia-Campos, PC Aoto, EMF Machal… - The American Journal of …, 2020 - cell.com
PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent
protein kinase (PKA), a pleiotropic holoenzyme that regulates numerous fundamental …

[HTML][HTML] Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A

M Umair, O Palander, M Bilal, B Almuzzaini, Q Alam… - Genomics, 2021 - Elsevier
Polydactyly or hexadactyly is characterized by an extra digit/toe with or without a bone.
Currently, variants in ten genes have been implicated in the non-syndromic form of …