SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

(2017) Claire E. L. Smith et al.   Frontiers in Physiology

The plasma membrane protein Rch1 is a negative regulator of cytosolic calcium homeostasis and positively regulated by the calcium/calcineurin signaling pathway in budding yeast

(2016) Yunying Zhao et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes

(2016) F. Taylan et al.   HORMONE AND METABOLIC RESEARCH

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

(2015) Tao Cai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

(2015) Curtis R. Herzog et al.   Oral Surgery Oral Medicine Oral Pathology Oral Radiology

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

(2015) Shuji Mizumoto et al.   Biomed Research International

XYLT1 Mutations in Desbuquois Dysplasia Type 2

(2014) Catherine Bui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

(2014) François Cartault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length

(2013) Emily K. Mis et al.   DEVELOPMENTAL BIOLOGY

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome

(2013) Thomas Müller et al.   HUMAN MOLECULAR GENETICS

CaRch1p does not functionally interact with the high-affinity Ca2+influx system (HACS) ofCandida albicans

(2013) Joerg Alber et al.   YEAST

Functional Overlap Between Chondroitin and Heparan Sulfate Proteoglycans During VEGF-Induced Sprouting Angiogenesis

(2012) Sébastien Le Jan et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

(2012) Mathilde Nizon et al.   HUMAN MUTATION

Age-related Changes in Rat Myocardium Involve Altered Capacities of Glycosaminoglycans to Potentiate Growth Factor Functions and Heparan Sulfate-altered Sulfation

(2012) Minh Bao Huynh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Morphogenetic roles of perlecan in the tooth enamel organ: An analysis of overexpression using transgenic mice

(2011) Hiroko Ida-Yonemochi et al.   MATRIX BIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

(2009) Munis Dündar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CANT1 Mutations in Desbuquois Dysplasia

(2009) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate

(2009) M. Cortes et al.   DEVELOPMENT

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

(2008) Carine Le Goff et al.   NATURE GENETICS