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[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery
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 …
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 …
roles in the development of many organs and tissues, and are deregulated in birth defects …
Hedgehog signal and genetic disorders
The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …
Clinical genetics of polydactyly: an updated review
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb
anomaly characterized by extra fingers or toes, with various associated morphologic …
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 …
syndromic and non-syndromic polydactylies and highlights dactyly presentations with …
Role of GLI transcription factors in pathogenesis and their potential as new therapeutic targets
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 …
main mediators of the HH-GLI signaling pathway. This is one of the major developmental …
Genetic overview of postaxial polydactyly: updated classification
Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with
various morphologic phenotypes. Apart from physical and functional impairments, the …
various morphologic phenotypes. Apart from physical and functional impairments, the …
[HTML][HTML] Paternal preconception phthalate exposure alters sperm methylome and embryonic programming
Preconception environmental conditions have been demonstrated to shape sperm
epigenetics and subsequently offspring health and development. Our previous findings in …
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 …
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
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 …
Currently, variants in ten genes have been implicated in the non-syndromic form of …