Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

[1]  T. Ozcelik,et al.  Neuro-ophthalmologic findings in humans with quadrupedal locomotion , 2012, Ophthalmic genetics.

[2]  G. Narkis,et al.  Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1 , 2012, Human mutation.

[3]  Huseyin Boyaci,et al.  Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. , 2011, Genome research.

[4]  Daniel Rios,et al.  Ensembl 2011 , 2010, Nucleic Acids Res..

[5]  Serafim Batzoglou,et al.  Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++ , 2010, PLoS Comput. Biol..

[6]  L. Villard,et al.  Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype , 2010, European Journal of Human Genetics.

[7]  Jana Marie Schwarz,et al.  MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.

[8]  T. Graham,et al.  Interplay of proteins and lipids in generating membrane curvature. , 2010, Current opinion in cell biology.

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

[10]  Aaron R. Quinlan,et al.  BIOINFORMATICS APPLICATIONS NOTE , 2022 .

[11]  Richard Durbin,et al.  Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..

[12]  L. Holm,et al.  The Pfam protein families database , 2005, Nucleic Acids Res..

[13]  M. State,et al.  Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy , 2010, neurogenetics.

[14]  Jon W. Huss,et al.  BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources , 2009, Genome Biology.

[15]  R. Molday,et al.  Localization, Purification, and Functional Reconstitution of the P4-ATPase Atp8a2, a Phosphatidylserine Flippase in Photoreceptor Disc Membranes* , 2009, The Journal of Biological Chemistry.

[16]  J. Holthuis,et al.  Mechanism and significance of P4 ATPase-catalyzed lipid transport: lessons from a Na+/K+-pump. , 2009, Biochimica et biophysica acta.

[17]  Lieke M van der Velden,et al.  ATP8B1 is essential for maintaining normal hearing , 2009, Proceedings of the National Academy of Sciences.

[18]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[19]  Peter Nürnberg,et al.  HomozygosityMapper—an interactive approach to homozygosity mapping , 2009, Nucleic Acids Res..

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

[21]  P. Robinson,et al.  CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait , 2009, PLoS genetics.

[22]  E. Birney,et al.  Pfam: the protein families database , 2013, Nucleic Acids Res..

[23]  R. Durbin,et al.  Mapping Quality Scores Mapping Short Dna Sequencing Reads and Calling Variants Using P

, 2022 .

[24]  Tayfun Ozcelik,et al.  Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans , 2008, Proceedings of the National Academy of Sciences.

[25]  Joachim Klose,et al.  Transcriptome and proteome analysis of early embryonic mouse brain development , 2008, Proteomics.

[26]  H. Ropers,et al.  Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome , 2008, European Journal of Human Genetics.

[27]  Brad T. Sherman,et al.  Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources , 2008, Nature Protocols.

[28]  R. Ofir,et al.  Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. , 2007, Investigative ophthalmology & visual science.

[29]  U. Tan.  A NEW SYNDROME WITH QUADRUPEDAL GAIT, PRIMITIVE SPEECH, AND SEVERE MENTAL RETARDATION AS A LIVE MODEL FOR HUMAN EVOLUTION , 2006, The International journal of neuroscience.

[30]  U. Tan.  EVIDENCE FOR “UNERTAN SYNDROME” AND THE EVOLUTION OF THE HUMAN MIND , 2006, The International journal of neuroscience.

[31]  S. Mundlos,et al.  Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p , 2005, Journal of Medical Genetics.

[32]  E. Wirrell,et al.  Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. , 2005, American journal of human genetics.

[33]  S. Batzoglou,et al.  Distribution and intensity of constraint in mammalian genomic sequence. , 2005, Genome research.

[34]  Liam J. McGuffin,et al.  Protein structure prediction servers at University College London , 2005, Nucleic Acids Res..

[35]  K. Elbedour,et al.  COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED) , 2005, American journal of medical genetics. Part A.

[36]  Richard J. Thompson,et al.  Characterization of mutations in ATP8B1 associated with hereditary cholestasis , 2004, Hepatology.

[37]  M. Meguro,et al.  A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome , 2001, Nature Genetics.

[38]  S. Henikoff,et al.  Predicting deleterious amino acid substitutions. , 2001, Genome research.

[39]  M. Pfaffl,et al.  A new mathematical model for relative quantification in real-time RT-PCR. , 2001, Nucleic acids research.

[40]  S Rozen,et al.  Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.

[41]  P. Williamson,et al.  Differential expression of putative transbilayer amphipath transporters. , 1999, Physiological genomics.