Orofacial clefts embryology, classification, epidemiology, and genetics

G Nasreddine, J El Hajj… - … Research/Reviews in …, 2021 - Elsevier
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …

Genetics of cleft lip and/or cleft palate: association with other common anomalies

N Setó-Salvia, P Stanier - European journal of medical genetics, 2014 - Elsevier
Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most
common birth defects but we still have difficulty explaining why the majority of cases occur …

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

A Rauch, D Wieczorek, E Graf, T Wieland, S Endele… - The Lancet, 2012 - thelancet.com
Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries

ME Talkowski, JA Rosenfeld, I Blumenthal… - Cell, 2012 - cell.com
Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …

A network connecting Runx2, SATB2, and the miR-23a∼ 27a∼ 24-2 cluster regulates the osteoblast differentiation program

MQ Hassan, JAR Gordon, MM Beloti… - Proceedings of the …, 2010 - National Acad Sciences
Induced osteogenesis includes a program of microRNAs (miRs) to repress the translation of
genes that act as inhibitors of bone formation. How expression of bone-related miRs is …

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or …

EJ Leslie, JC Carlson, JR Shaffer, A Butali, CJ Buxó… - Human genetics, 2017 - Springer
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial
birth defects with complex etiologies that include genetic and environmental risk factors …

SATB 2 is a novel marker of osteoblastic differentiation in bone and soft tissue tumours

JR Conner, JL Hornick - Histopathology, 2013 - Wiley Online Library
Aims Diagnosing osteosarcoma can be challenging, as osteoid deposition is often limited in
extent, and hyalinized stroma may closely mimic osteoid. SATB 2 is a nuclear protein that …

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

K Saleem, T Zaib, W Sun, S Fu - Heliyon, 2019 - cell.com
Non syndromic orofacial clefts specifically non-syndromic cleft lip/palate are one of the most
common craniofacial malformation among birth defects in human having multifactorial …

Diverse epigenetic mechanisms of human disease

E Brookes, Y Shi - Annual review of genetics, 2014 - annualreviews.org
Epigenetic control of gene expression programs is essential for normal organismal
development and cellular function. Abrogation of epigenetic regulation is seen in many …

Biological mechanisms in palatogenesis and cleft palate

L Meng, Z Bian, R Torensma… - Journal of dental …, 2009 - journals.sagepub.com
Clefts of the palate are common birth defects requiring extensive treatment. They appear to
be caused by multiple genetic and environmental factors during palatogenesis. This may …