Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

[1]  N. Foulds,et al.  Further defining the phenotypic spectrum of B4GALT7 mutations , 2016, American journal of medical genetics. Part A.

[2]  L. Penning,et al.  Reference genes for reverse transcription quantitative PCR in canine brain tissue , 2015, BMC Research Notes.

[3]  H. Mefford,et al.  A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes , 2015, American journal of medical genetics. Part A.

[4]  W. Back,et al.  A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses , 2015, BMC Genomics.

[5]  A. Brice,et al.  Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia , 2015, Neurology.

[6]  A. Munnich,et al.  Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome , 2014, European Journal of Human Genetics.

[7]  Mauricio O. Carneiro,et al.  From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.

[8]  Michael H. Guo,et al.  Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature , 2013, American journal of medical genetics. Part A.

[9]  Pablo Cingolani,et al.  © 2012 Landes Bioscience. Do not distribute. , 2022 .

[10]  Charles D. Johnson,et al.  Whole-Genome sequencing and genetic variant analysis of a quarter Horse mare , 2012, BMC Genomics.

[11]  Charles D. Johnson,et al.  Whole-Genome sequencing and genetic variant analysis of a quarter Horse mare , 2012, BMC Genomics.

[12]  B. V. van Oost,et al.  A Contracted DNA Repeat in LHX3 Intron 5 Is Associated with Aberrant Splicing and Pituitary Dwarfism in German Shepherd Dogs , 2011, PloS one.

[13]  Helga Thorvaldsdóttir,et al.  Integrative Genomics Viewer , 2011, Nature Biotechnology.

[14]  J. Conroy,et al.  Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses. , 2010, Animal genetics.

[15]  Ying Cheng,et al.  The European Nucleotide Archive , 2010, Nucleic Acids Res..

[16]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[17]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[18]  W. Back,et al.  Normal function of the hypothalamic-pituitary growth axis in three dwarf Friesian foals , 2009, Veterinary Record.

[19]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[20]  W. Back,et al.  Phenotypic diagnosis of dwarfism in six Friesian horses. , 2008, Equine veterinary journal.

[21]  Yurii S. Aulchenko,et al.  BIOINFORMATICS APPLICATIONS NOTE doi:10.1093/bioinformatics/btm108 Genetics and population analysis GenABEL: an R library for genome-wide association analysis , 2022 .

[22]  L. Kiesel,et al.  Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers–Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7) , 2006, Journal of Molecular Medicine.

[23]  L. Tsui,et al.  A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type , 2004, American journal of medical genetics. Part A.

[24]  Kazuro Furukawa,et al.  Molecular Basis for the Progeroid Variant of Ehlers-Danlos Syndrome , 1999, The Journal of Biological Chemistry.

[25]  E. Bennett,et al.  Cloning and Expression of a Proteoglycan UDP-Galactose:β-Xylose β1,4-Galactosyltransferase I , 1999, The Journal of Biological Chemistry.

[26]  David Haussler,et al.  Improved splice site detection in Genie , 1997, RECOMB '97.

[27]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[28]  E. Bennett,et al.  Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family. , 1999, The Journal of biological chemistry.

[29]  J. Laville,et al.  Larsen's syndrome: review of the literature and analysis of thirty-eight cases. , 1994, Journal of pediatric orthopedics.