SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations
The SATB2‐associated syndrome is a recently described syndrome characterized by
developmental delay/intellectual disability with absent or limited speech development …
developmental delay/intellectual disability with absent or limited speech development …
Genetic and epigenetic studies in non‐syndromic oral clefts
The etiology of non‐syndromic oral clefts (NSOFC) is complex with genetics, genomics,
epigenetics, and stochastics factors playing a role. Several approaches have been applied …
epigenetics, and stochastics factors playing a role. Several approaches have been applied …
Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders
Alternative polyadenylation (APA) plays an essential role in brain development; however,
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …
High-resolution epigenomic atlas of human embryonic craniofacial development
Defects in patterning during human embryonic development frequently result in craniofacial
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …
[HTML][HTML] Clinical practice guidelines on the treatment of patients with cleft lip, alveolus, and palate: An executive summary
AB Mink van der Molen, JMM van Breugel… - Journal of clinical …, 2021 - mdpi.com
Significant treatment variation exists in the Netherlands between teams treating patients with
cleft lip, alveolus, and/or palate, resulting in a confusing and undesirable situation for …
cleft lip, alveolus, and/or palate, resulting in a confusing and undesirable situation for …
Genetics and orofacial clefts: a clinical perspective
Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in
humans. Most OFCs are sporadic and isolated-these are thought to be multifactorial in …
humans. Most OFCs are sporadic and isolated-these are thought to be multifactorial in …
Identification of novel candidate disease genes from de novo exonic copy number variants
Background Exon-targeted microarrays can detect small (< 1000 bp) intragenic copy
number variants (CNVs), including those that affect only a single exon. This genome-wide …
number variants (CNVs), including those that affect only a single exon. This genome-wide …
The tubby-like proteins kingdom in animals and plants
M Wang, Z Xu, Y Kong - Gene, 2018 - Elsevier
Each gene of the tubby-like family is characterized by a signature of C-terminal tubby
domain. The wide spread of this family in plants and animals implies they have an important …
domain. The wide spread of this family in plants and animals implies they have an important …
Rare variants analyses suggest novel cleft genes in the African population
Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology.
While over 60 common risk loci have been identified, they explain only a small proportion of …
While over 60 common risk loci have been identified, they explain only a small proportion of …
Advances in research of biological functions of Isthmin-1
L Menghuan, Y Yang, M Qianhe, Z Na… - Journal of Cell …, 2023 - Springer
Abstract Isthmin-1 (ISM1) was initially thought to be a brain secretory factor, but with the
development of technical means of research and the refinement of animal models …
development of technical means of research and the refinement of animal models …