4.7 Article

Deficiency of Fam20b-Catalyzed Glycosaminoglycan Chain Synthesis in Neural Crest Leads to Cleft Palate

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Dentistry, Oral Surgery & Medicine

IRF6 rs2235371 as a risk factor for non-syndromic cleft palate only among the Deutero-Malay race in Indonesia and its effect on the IRF6 mRNA expression level

Saskia Lenggogeni Nasroen et al.

Summary: This study found that the IRF6 rs2235371 polymorphism is associated with specific phenotypes of non-syndromic cleft lip and palate in the Deutero-Malay population from Indonesia and it affects the expression level of IRF6 mRNA.

DENTAL AND MEDICAL PROBLEMS (2022)

Article Cell & Tissue Engineering

Innovative Molecular and Cellular Therapeutics in Cleft Palate Tissue Engineering

Jeremie D. Oliver et al.

Summary: Clefts of the lip and/or palate are common orofacial birth defects, with challenges in correcting severe cleft defects through surgery alone. Advances in tissue engineering offer new avenues to stimulate bone formation at the site of surgical correction for palatal clefts, potentially improving treatment outcomes.

TISSUE ENGINEERING PART B-REVIEWS (2021)

Review Anatomy & Morphology

Making and shaping endochondral and intramembranous bones

Gabriel L. Galea et al.

Summary: This article discusses the diverse shapes and sizes of skeletal elements and their importance in embryonic development. It also highlights the crucial cellular mechanisms and behaviors during ossification that determine skeletal shape and size accurately.

DEVELOPMENTAL DYNAMICS (2021)

Review Biochemistry & Molecular Biology

The ABCs of the atypical Fam20 secretory pathway kinases

Carolyn A. Worby et al.

Summary: The study of extracellular phosphorylation started in the late 19th century, leading to the identification of Fam20 family members as key regulators of secretory pathway components, impacting health and disease.

JOURNAL OF BIOLOGICAL CHEMISTRY (2021)

Review Biochemistry & Molecular Biology

Regulation of Osteoblast Differentiation by Cytokine Networks

Dulshara Sachini Amarasekara et al.

Summary: Osteoblasts, as bone-forming cells, are regulated by transcription factors and cytokine networks to control osteoblast differentiation, playing pivotal roles in bone modeling and remodeling.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Endocrinology & Metabolism

Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice

Jonathan J. Rios et al.

Summary: Proper skeletal development requires coordination of complex molecular mechanisms, and disruption of these processes through genetic mutation can lead to skeletal abnormalities. The study successfully developed a high-throughput skeletal screening approach to identify genes essential for skeletal development, showing the feasibility of in vivo mutagenesis to create mouse models of skeletal disease and characterize mutations in developmentally essential genes like FAM20B. Results and engineered mouse models from the study are publicly available through the Mutagenetix database.

JOURNAL OF BONE AND MINERAL RESEARCH (2021)

Review Cell Biology

Proteoglycans and Glycosaminoglycans in Stem Cell Homeostasis and Bone Tissue Regeneration

Jiawen Chen et al.

Summary: Proteoglycans are essential for regulating stem cell homeostasis and show potential for being utilized as novel glycomics carriers or bio-active molecules in bone regeneration. Recent research has outlined their distinct profiles and functions in maintaining the balance between self-renewal and differentiation of stem cells.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

Review Biochemistry & Molecular Biology

The clinical significance and correlative signaling pathways of paired box gene 9 in development and carcinogenesis

Chandra Sekhar Bhol et al.

Summary: PAX9 gene is essential for tooth and craniofacial development, with mutations and polymorphisms associated with abnormal tooth development risk. Additionally, PAX9 plays a role in tumorigenesis, differentiation, and drug sensitivity.

BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER (2021)

Article Genetics & Heredity

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

Manal M. Thomas et al.

Summary: Desbuquois dysplasia type 1 (DBQD1) is a rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a typical radiological appearance at the proximal femur. Two unrelated Egyptian patients with DBQD1 were reported, each with different gene mutations but sharing radiological features. Phenotypic variability and variable expressivity of DBQD were observed, emphasizing the need for further molecular studies for phenotype-genotype correlations and expanding the phenotypic spectrum of the disorder.

MOLECULAR SYNDROMOLOGY (2021)

Article Cell Biology

Altered BMP-Smad4 signaling causes complete cleft palate by disturbing osteogenesis in palatal mesenchyme

Nan Li et al.

Summary: This study demonstrates that BMP signaling plays differential roles in anterior and posterior palatal mesenchyme in mice, and the BMP-Smad4 signaling is crucial for osteogenesis in palatal mesenchyme and needs to be finely tuned.

JOURNAL OF MOLECULAR HISTOLOGY (2021)

Article Dentistry, Oral Surgery & Medicine

Genome-wide Identification of Foxf2 Target Genes in Palate Development

J. Xu et al.

JOURNAL OF DENTAL RESEARCH (2020)

Article Otorhinolaryngology

Associated syndromes in patients with Pierre Robin Sequence

Peter Karempelis et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2020)

Review Biochemistry & Molecular Biology

Extracellular Matrix Remodeling During Palate Development

Xia Wang et al.

ORGANOGENESIS (2020)

Review Developmental Biology

Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex

Susan M. Motch Perrine et al.

JOURNAL OF DEVELOPMENTAL BIOLOGY (2020)

Article Surgery

Pierre Robin Sequence

Sun T. Hsieh et al.

CLINICS IN PLASTIC SURGERY (2019)

Review Biochemistry & Molecular Biology

Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view

Chiara Paganini et al.

FEBS JOURNAL (2019)

Article Dentistry, Oral Surgery & Medicine

Requirement of Hyaluronan Synthase-2 in Craniofacial and Palate Development

Y. Lan et al.

JOURNAL OF DENTAL RESEARCH (2019)

Article Multidisciplinary Sciences

Structure and evolution of the Fam20 kinases

Hui Zhang et al.

NATURE COMMUNICATIONS (2018)

Article Dentistry, Oral Surgery & Medicine

Inactivation of Fam20b in the neural crest-derived mesenchyme of mouse causes multiple craniofacial defects

Xuenan Liu et al.

EUROPEAN JOURNAL OF ORAL SCIENCES (2018)

Review Dentistry, Oral Surgery & Medicine

Molecular and Cellular Mechanisms of Palate Development

C. Li et al.

JOURNAL OF DENTAL RESEARCH (2017)

Review Pharmacology & Pharmacy

Extracellular matrix structure

Achilleas D. Theocharis et al.

ADVANCED DRUG DELIVERY REVIEWS (2016)

Review Endocrinology & Metabolism

Bone development

Agnes D. Berendsen et al.

Article Dentistry, Oral Surgery & Medicine

Inactivation of Fam20B in the dental epithelium of mice leads to supernumerary incisors

Ye Tian et al.

EUROPEAN JOURNAL OF ORAL SCIENCES (2015)

Review Biochemistry & Molecular Biology

Proteoglycan form and function: A comprehensive nomenclature of proteoglycans

Renato V. Iozzo et al.

MATRIX BIOLOGY (2015)

Article Genetics & Heredity

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Catherine Bui et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Biochemistry & Molecular Biology

Identification of Phosphatase That Dephosphorylates Xylose in the Glycosaminoglycan-Protein Linkage Region of Proteoglycans

Toshiyasu Koike et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2014)

Article Multidisciplinary Sciences

Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis

Jianzhong Wen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Biochemistry & Molecular Biology

EXTL2, a Member of the EXT Family of Tumor Suppressors, Controls Glycosaminoglycan Biosynthesis in a Xylose Kinase-dependent Manner

Satomi Nadanaka et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Article Biochemistry & Molecular Biology

Mice with Tak1 Deficiency in Neural Crest Lineage Exhibit Cleft Palate Associated with Abnormal Tongue Development

Zhongchen Song et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Article Biotechnology & Applied Microbiology

Heparanase Localization during Palatogenesis in Mice

Azumi Hirata et al.

BIOMED RESEARCH INTERNATIONAL (2013)

Article Physiology

The control and importance of hyaluronan synthase expression in palatogenesis

Jennifer L. Galloway et al.

FRONTIERS IN PHYSIOLOGY (2013)

Article Developmental Biology

Bmpr1a signaling plays critical roles in palatal shelf growth and palatal bone formation

Jin-A. Baek et al.

DEVELOPMENTAL BIOLOGY (2011)

Article Genetics & Heredity

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

Tatsuya Furuichi et al.

JOURNAL OF MEDICAL GENETICS (2011)

Review Genetics & Heredity

Cleft lip and palate: understanding genetic and environmental influences

Michael J. Dixon et al.

NATURE REVIEWS GENETICS (2011)

Review Biochemistry & Molecular Biology

Proteoglycans in health and disease: novel roles for proteoglycans in malignancy and their pharmacological targeting

Achilleas D. Theocharis et al.

FEBS JOURNAL (2010)

Article Multidisciplinary Sciences

Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate

Alison K. Snyder-Warwick et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Genetics & Heredity

Identification of CANT1 Mutations in Desbuquois Dysplasia

Celine Huber et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Biochemistry & Molecular Biology

FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region

Toshiyasu Koike et al.

BIOCHEMICAL JOURNAL (2009)

Article Genetics & Heredity

A novel syndrome resembling Desbuquois dysplasia

A Al Kaissi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)