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TGF-beta cleft palate

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https://www.readbyqxmd.com/read/27880803/wdr68-mediates-dorsal-and-ventral-patterning-events-for-craniofacial-development
#1
Estibaliz Alvarado, Mina Yousefelahiyeh, Greg Alvarado, Robin Shang, Taryn Whitman, Andrew Martinez, Yang Yu, Annie Pham, Anish Bhandari, Bingyan Wang, Robert M Nissen
Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. For example, auriculocondylar syndrome is caused by impaired Endothelin-1 (Edn1) signaling, and Alagille syndrome is caused by defects in Jagged-Notch signaling...
2016: PloS One
https://www.readbyqxmd.com/read/26954016/association-between-the-transforming-growth-factor-beta-1-gene-polymorphisms-and-turkish-patients-with-nonsyndromic-cleft-lip-with-without-cleft-palate
#2
Deniz Aslar Oner, Hakki Tastan
OBJECTIVE: To examine transforming growth factor beta 1 (TGFβ1) gene polymorphisms in Turkish patients with nonsyndromic cleft lip with/without cleft palate (nsCL/P). METHODS: A total of 205 Turkish subjects were included; 80 nsCL/P patients and 125 unrelated control individuals. Analysis of gene polymorphisms was carried out by polymerase chain reaction and DNA sequencing. RESULTS: We found the substitution of a proline by a leucine at codon 10 (Pro10Leu) and the substitution of an arginine by a proline at codon 25 (Arg25Pro) in exon 1 of the TGFβ1 gene in nsCL/P patients...
May 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/26151095/screening-of-transforming-growth-factor-beta-3-and-jagged2-genes-in-the-malay-population-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#3
Norliana Ghazali, Normastura Abd Rahman, Thirumulu Ponnuraj Kannan, Saidi Jaafar
OBJECTIVE: To determine the prevalence of mutations in transforming growth factor beta 3 (TGFβ3) and Jagged2 genes and their association with nonsyndromic cleft lip with or without cleft palate (CL±P) patients. DESIGN: Cross-sectional study on nonsyndromic CL±P and noncleft patients. SETTING: Reconstructive clinic and outpatient dental clinic, Hospital Universiti Sains Malaysia. PATIENTS: Blood samples of 96 nonsyndromic CL±P and 96 noncleft subjects...
July 2015: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/25662552/bmp7-gene-involved-in-nonsyndromic-orofacial-clefts-in-western-han-chinese
#4
Qiongqiong Yu, Sha He, Ni Zeng, Jian Ma, Bihe Zhang, Bing Shi, Zhonglin Jia
BACKGROUND: Nonsyndromic orofacial clefts (NSOCs) are the most common craniofacial birth defects with complex etiology in which multiple genes and environmental exposures are involved. Bone morphogenetic protein 7 (BMP7), as a member of the transforming growth factor-beta (TGF-beta) superfamily, has been shown to play crucial roles in palate and other orofacial ectodermal appendages development in animal models. MATERIAL AND METHODS: This study was designed to investigate the possible associations between BMP7 gene and the NSOCs (221 case-parent trios) in Western Han Chinese...
May 2015: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/25382630/type-iii-transforming-growth-factor-beta-receptor-regulates-vascular-and-osteoblast-development-during-palatogenesis
#5
Cynthia R Hill, Britni H Jacobs, Christopher B Brown, Joey V Barnett, Steven L Goudy
BACKGROUND: Cleft palate occurs in up to 1:1,000 live births and is associated with mutations in multiple genes. Palatogenesis involves a complex choreography of palatal shelf elongation, elevation, and fusion. Transforming growth factor β (TGFβ) and bone morphogenetic protein 2 (BMP2) canonical signaling is required during each stage of palate development. The type III TGFβ receptor (TGFβR3) binds all three TGFβ ligands and BMP2, but its contribution to palatogenesis is unknown...
February 2015: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/25372553/screening-of-transforming-growth-factor-beta-3-and-jagged2-genes-in-the-malay-population-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#6
Norliana Ghazali, Normastura Abd Rahman, M Community Medicine, Thirumulu Ponnuraj Kannan, Saidi Jaafar
Objective :  To determine the prevalence of mutations in transforming growth factor beta 3 (TGFβ3) and Jagged2 genes and their association with nonsyndromic cleft lip with or without cleft palate (CL±P) patients. Design :  Cross-sectional study on nonsyndromic CL±P and noncleft patients. Setting :  Reconstructive clinic and outpatient dental clinic, Hospital Universiti Sains, Malaysia. Patients :  Blood samples of 96 nonsyndromic CL±P and 96 noncleft subjects. Main Outcome Measure :  Prevalence and association of mutations in TGFβ3 and Jagged2 genes with nonsyndromic CL±P...
November 5, 2014: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/24496627/tgf%C3%AE-regulates-epithelial-mesenchymal-interactions-through-wnt-signaling-activity-to-control-muscle-development-in-the-soft-palate
#7
Jun-ichi Iwata, Akiko Suzuki, Toshiaki Yokota, Thach-Vu Ho, Richard Pelikan, Mark Urata, Pedro A Sanchez-Lara, Yang Chai
Clefting of the soft palate occurs as a congenital defect in humans and adversely affects the physiological function of the palate. However, the molecular and cellular mechanism of clefting of the soft palate remains unclear because few animal models exhibit an isolated cleft in the soft palate. Using three-dimensional microCT images and histological reconstruction, we found that loss of TGFβ signaling in the palatal epithelium led to soft palate muscle defects in Tgfbr2(fl/fl);K14-Cre mice. Specifically, muscle mass was decreased in the soft palates of Tgfbr2 mutant mice, following defects in cell proliferation and differentiation...
February 2014: Development
https://www.readbyqxmd.com/read/24443023/loeys-dietz-syndrome
#8
REVIEW
Lut Van Laer, Harry Dietz, Bart Loeys
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGFβ) signalling pathway: TGFBR1, TGFBR2, SMAD3 and TGFB2...
2014: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/24206222/molecular-contribution-to-cleft-palate-production-in-cleft-lip-mice
#9
Yasunori Sasaki, Yuji Taya, Kan Saito, Kazuya Fujita, Takaaki Aoba, Taku Fujiwara
Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip...
May 2014: Congenital Anomalies
https://www.readbyqxmd.com/read/24194458/hand-and-fibrillin-1-deposition-abnormalities-in-loeys-dietz-syndrome-expanding-the-clinical-spectrum
#10
Brian H Y Chung, Tim Bradley, Lars Grosse-Wortmann, Susan Blaser, Peter Dirks, Aleksander Hinek, David Chitayat
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by hypertelorism, bifid uvula, cleft palate and arterial tortuosity. We report on a patient with LDS, bearing mutation in the TGFβR2 gene, whose prenatal examination demonstrated clenched fists and club feet, suggesting arthrogryposis multiplex congenita. Postnatal assessment showed digital abnormalities, including brachydactyly, camptodactyly, partial syndactyly and absent distal phalanges. With the lack of fibrillin-1 microfibril deposition as well as impaired and inadequate elastic fiber assembly in our patient's fibroblasts, we speculate that the skeletal abnormalities seen in this patient with LDS are the result of lack of these components in embryonal perichondrium and in blood vessels...
February 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23975680/modulation-of-lipid-metabolic-defects-rescues-cleft-palate-in-tgfbr2-mutant-mice
#11
Junichi Iwata, Akiko Suzuki, Richard C Pelikan, Thach-Vu Ho, Pedro A Sanchez-Lara, Yang Chai
Mutations in transforming growth factor beta (TGFβ) receptor type II (TGFBR2) cause Loeys-Dietz syndrome, characterized by craniofacial and cardiovascular abnormalities. Mice with a deletion of Tgfbr2 in cranial neural crest cells (Tgfbr2(fl/fl);Wnt1-Cre mice) develop cleft palate as the result of abnormal TGFβ signaling activation. However, little is known about metabolic processes downstream of TGFβ signaling during palatogenesis. Here, we show that Tgfbr2 mutant palatal mesenchymal cells spontaneously accumulate lipid droplets, resulting from reduced lipolysis activity...
January 1, 2014: Human Molecular Genetics
https://www.readbyqxmd.com/read/23816882/ctgf-mediates-smad-dependent-transforming-growth-factor-%C3%AE-signaling-to-regulate-mesenchymal-cell-proliferation-during-palate-development
#12
Carolina Parada, Jingyuan Li, Junichi Iwata, Akiko Suzuki, Yang Chai
Transforming growth factor β (TGF-β) signaling plays crucial functions in the regulation of craniofacial development, including palatogenesis. Here, we have identified connective tissue growth factor (Ctgf) as a downstream target of the TGF-β signaling pathway in palatogenesis. The pattern of Ctgf expression in wild-type embryos suggests that it may be involved in key processes during palate development. We found that Ctgf expression is downregulated in both Wnt1-Cre; Tgfbr2(fl/fl) and Osr2-Cre; Smad4(fl/fl) palates...
September 2013: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/23613893/regulation-of-the-epithelial-adhesion-molecule-ceacam1-is-important-for-palate-formation
#13
Junko Mima, Aya Koshino, Kyoko Oka, Hitoshi Uchida, Yohki Hieda, Kanji Nohara, Mikihiko Kogo, Yang Chai, Takayoshi Sakai
Cleft palate results from a mixture of genetic and environmental factors and occurs when the bilateral palatal shelves fail to fuse. The objective of this study was to search for new genes involved in mouse palate formation. Gene expression of murine embryonic palatal tissue was analyzed at various developmental stages before, during, and after palate fusion using GeneChip® microarrays. Ceacam1 was one of the highly up-regulated genes during palate formation, and this was confirmed by quantitative real-time PCR...
2013: PloS One
https://www.readbyqxmd.com/read/23546880/tgf-%C3%AE-activated-kinase-1-tak1-mediates-agonist-induced-smad-activation-and-linker-region-phosphorylation-in-embryonic-craniofacial-neural-crest-derived-cells
#14
Kenji Yumoto, Penny S Thomas, Jamie Lane, Kouichi Matsuzaki, Maiko Inagaki, Jun Ninomiya-Tsuji, Gregory J Scott, Manas K Ray, Mamoru Ishii, Robert Maxson, Yuji Mishina, Vesa Kaartinen
BACKGROUND: The role of Smad-independent TGF-β signaling in craniofacial development is poorly elucidated. RESULTS: In craniofacial mesenchymal cells, Tak1 regulates both R-Smad C-terminal and linker region phosphorylation in TGF-β signaling. CONCLUSION: Tak1 plays an irreplaceable role in craniofacial ecto-mesenchyme during embryogenesis. SIGNIFICANCE: Understanding the mechanisms of TGF-β signaling contributes to knowledge of pathogenetic mechanisms underlying common craniofacial birth defects...
May 10, 2013: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/23460641/mice-with-tak1-deficiency-in-neural-crest-lineage-exhibit-cleft-palate-associated-with-abnormal-tongue-development
#15
Zhongchen Song, Chao Liu, Junichi Iwata, Shuping Gu, Akiko Suzuki, Cheng Sun, Wei He, Rong Shu, Lu Li, Yang Chai, YiPing Chen
Cleft palate represents one of the most common congenital birth defects in humans. TGFβ signaling, which is mediated by Smad-dependent and Smad-independent pathways, plays a crucial role in regulating craniofacial development and patterning, particularly in palate development. However, it remains largely unknown whether the Smad-independent pathway contributes to TGFβ signaling function during palatogenesis. In this study, we investigated the function of TGFβ activated kinase 1 (Tak1), a key regulator of Smad-independent TGFβ signaling in palate development...
April 12, 2013: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/23406900/smad4-irf6-genetic-interaction-and-tgf%C3%AE-mediated-irf6-signaling-cascade-are-crucial-for-palatal-fusion-in-mice
#16
Jun-ichi Iwata, Akiko Suzuki, Richard C Pelikan, Thach-Vu Ho, Pedro A Sanchez-Lara, Mark Urata, Michael J Dixon, Yang Chai
Cleft palate is one of the most common human birth defects and is associated with multiple genetic and environmental risk factors. Although mutations in the genes encoding transforming growth factor beta (TGFβ) signaling molecules and interferon regulatory factor 6 (Irf6) have been identified as genetic risk factors for cleft palate, little is known about the relationship between TGFβ signaling and IRF6 activity during palate formation. Here, we show that TGFβ signaling regulates expression of Irf6 and the fate of the medial edge epithelium (MEE) during palatal fusion in mice...
March 2013: Development
https://www.readbyqxmd.com/read/23060211/identification-of-candidate-downstream-targets-of-tgf%C3%AE-signaling-during-palate-development-by-genome-wide-transcript-profiling
#17
Richard C Pelikan, Junichi Iwata, Akiko Suzuki, Yang Chai, Joseph G Hacia
Nonsyndromic orofacial clefts are common birth defects whose etiology is influenced by complex genetic and environmental factors and gene-environment interactions. Although these risk factors are not yet fully elucidated, it is known that alterations in transforming growth factor-beta (TGFβ) signaling can cause craniofacial abnormalities, including cleft palate, in mammals. To elucidate the downstream targets of TGFβ signaling in palatogenesis, we analyzed the gene expression profiles of Tgfbr2(fl/fl) ;Wnt1-Cre mouse embryos with cleft palate and other craniofacial deformities resulting from the targeted inactivation of the Tgfbr2 gene in their cranial neural crest (CNC) cells...
April 2013: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/22472650/a-large-bioactive-bmp-ligand-with-distinct-signaling-properties-is-produced-by-alternative-proconvertase-processing
#18
Takuya Akiyama, Guillermo Marqués, Kristi A Wharton
Dimers of conventional transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) ligands are composed of two 100- to 140-amino acid peptides that are produced through the proteolytic processing of a proprotein precursor by proconvertases, such as furin. We report the identification of an evolutionarily conserved furin processing site in the amino terminus (NS) of the Glass bottom boat (Gbb; the Drosophila ortholog of vertebrate BMP5, 6, and 7) proprotein that generates a 328-amino acid, active BMP ligand distinct from the conventional 130-amino acid ligand...
April 3, 2012: Science Signaling
https://www.readbyqxmd.com/read/22335518/transforming-growth-factor-%C3%AE-signaling-perturbation-in-the-loeys-dietz-syndrome
#19
REVIEW
A Pezzini, E Del Zotto, A Giossi, I Volonghi, P Costa, A Padovani
The transforming growth factor β (TGFβ) superfamily consists of multipotential secreting cytokines that mediate many key events in normal cellular growth and development, including differentiation, proliferation, motility, organization and death. TGFβs act as ligand for 3 classes of cell surface receptors, the transmembrane serine-threonine kinase receptors, TGFβ receptor type I (TGFβRI) and type 2 (TGFβRII), and TGFβRIII receptors which include an ubiquitous extracellular β-glycan and the membrane glycoprotein endoglin (CD105)...
2012: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/22326956/modulation-of-noncanonical-tgf-%C3%AE-signaling-prevents-cleft-palate-in-tgfbr2-mutant-mice
#20
Jun-ichi Iwata, Joseph G Hacia, Akiko Suzuki, Pedro A Sanchez-Lara, Mark Urata, Yang Chai
Patients with mutations in either TGF-β receptor type I (TGFBR1) or TGF-β receptor type II (TGFBR2), such as those with Loeys-Dietz syndrome, have craniofacial defects and signs of elevated TGF-β signaling. Similarly, mutations in TGF-β receptor gene family members cause craniofacial deformities, such as cleft palate, in mice. However, it is unknown whether TGF-β ligands are able to elicit signals in Tgfbr2 mutant mice. Here, we show that loss of Tgfbr2 in mouse cranial neural crest cells results in elevated expression of TGF-β2 and TGF-β receptor type III (TβRIII); activation of a TβRI/TβRIII-mediated, SMAD-independent, TRAF6/TAK1/p38 signaling pathway; and defective cell proliferation in the palatal mesenchyme...
March 2012: Journal of Clinical Investigation
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