Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

[1]  Marc S. Williams,et al.  A dyadic approach to the delineation of diagnostic entities in clinical genomics. , 2021, American journal of human genetics.

[2]  M. Qi,et al.  A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum. , 2020, European journal of medical genetics.

[3]  Elizabeth L. Fieg,et al.  De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. , 2019, American journal of human genetics.

[4]  E. Zackai,et al.  Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. , 2019, European journal of medical genetics.

[5]  G. Vriend,et al.  Front Cover, Volume 40, Issue 8 , 2019, Human Mutation.

[6]  H. Mefford,et al.  De novo and biallelic DEAF1 variants cause a phenotypic spectrum , 2019, Genetics in Medicine.

[7]  G. Vriend,et al.  MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains , 2019, bioRxiv.

[8]  M. Tartaglia,et al.  Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling , 2018, Human molecular genetics.

[9]  S. Mundlos,et al.  A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome , 2018, American journal of medical genetics. Part A.

[10]  Jonathan A. Cooper,et al.  Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. , 2018, American journal of human genetics.

[11]  F. Alkuraya,et al.  Elsahy–Waters syndrome is caused by biallelic mutations in CDH11 , 2018, American journal of medical genetics. Part A.

[12]  R. Hennekam,et al.  Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome , 2018, European Journal of Human Genetics.

[13]  E. Utine,et al.  Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome , 2017, American journal of medical genetics. Part A.

[14]  A. Antonellis,et al.  Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease , 2017, Human molecular genetics.

[15]  F. Escande,et al.  Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 , 2017, Genetics in Medicine.

[16]  M. Bachmann,et al.  Cadherin-11 localizes to focal adhesions and promotes cell–substrate adhesion , 2016, Nature Communications.

[17]  Nathan R. Wilson,et al.  SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination , 2016, Scientific Reports.

[18]  M. Passos-Bueno,et al.  Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate , 2015, Human mutation.

[19]  E. Zackai,et al.  Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome , 2015, American journal of medical genetics. Part A.

[20]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[21]  S. Andreadis,et al.  CDH2 and CDH11 act as regulators of stem cell fate decisions. , 2015, Stem cell research.

[22]  A. Barkovich,et al.  De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy , 2015, Annals of clinical and translational neurology.

[23]  Marni J. Falk,et al.  Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome , 2014, Journal of Medical Genetics.

[24]  R. Mayor,et al.  Cadherin-11 Mediates Contact Inhibition of Locomotion during Xenopus Neural Crest Cell Migration , 2013, PloS one.

[25]  Solomon H. Snyder,et al.  Erratum: Inositol polyphosphate multikinase is a coactivator of p53-mediated transcription and cell death (Science Signaling (2013) 6: 273 (er1) Doi: 10.1126/scisignal.6273er1) , 2013 .

[26]  Benjamin E. Gross,et al.  Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal , 2013, Science Signaling.

[27]  Eric Theveneau,et al.  Cadherins in collective cell migration of mesenchymal cells , 2012, Current opinion in cell biology.

[28]  B. Honig,et al.  Thinking outside the cell: how cadherins drive adhesion. , 2012, Trends in cell biology.

[29]  Yuan Zhang,et al.  The human cadherin 11 is a pro-apoptotic tumor suppressor modulating cell stemness through Wnt/β-catenin signaling and silenced in common carcinomas , 2011, Oncogene.

[30]  S. Pedigo,et al.  Calcium-induced strain in the monomer promotes dimerization in neural cadherin. , 2011, Biochemistry.

[31]  Stephen S. Gisselbrecht,et al.  Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. , 2011, American journal of human genetics.

[32]  C. Logothetis,et al.  Cadherin-11 increases migration and invasion of prostate cancer cells and enhances their interaction with osteoblasts. , 2010, Cancer research.

[33]  B. Gallie,et al.  Cdh11 Acts as a Tumor Suppressor in a Murine Retinoblastoma Model by Facilitating Tumor Cell Death , 2010, PLoS genetics.

[34]  Roberto Mayor,et al.  Cadherin-11 regulates protrusive activity in Xenopus cranial neural crest cells upstream of Trio and the small GTPases. , 2009, Genes & development.

[35]  L. Taneyhill To adhere or not to adhere , 2008, Cell adhesion & migration.

[36]  T. Lecuit,et al.  A two-tiered mechanism for stabilization and immobilization of E-cadherin , 2008, Nature.

[37]  F. Roviello,et al.  Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management. , 2007, European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology.

[38]  E. Zackai,et al.  A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes , 2007, American journal of medical genetics. Part A.

[39]  A. Slavotinek,et al.  Atrioventricular block and wiry hair in Teebi hypertelorism syndrome , 2006, American journal of medical genetics. Part A.

[40]  Fabiana Bahna,et al.  Type II Cadherin Ectodomain Structures: Implications for Classical Cadherin Specificity , 2006, Cell.

[41]  S. Mundlos,et al.  Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) , 2005, Journal of Medical Genetics.

[42]  Conrad C. Huang,et al.  UCSF Chimera—A visualization system for exploratory research and analysis , 2004, J. Comput. Chem..

[43]  R. Koenig Teebi hypertelorism syndrome , 2003, Clinical dysmorphology.

[44]  D. Leckband,et al.  Functional analysis of the structural basis of homophilic cadherin adhesion. , 2003, Biophysical journal.

[45]  A. Teebi,et al.  Teebi hypertelorism syndrome: report of a family with previously unrecognized findings. , 2002, American journal of medical genetics.

[46]  M. Guion-Almeida,et al.  Teebi hypertelorism syndrome: Additional cases , 2002, American journal of medical genetics. Part A.

[47]  I. Perlman,et al.  Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin , 2001, Nature Genetics.

[48]  D. Wedlich,et al.  Xenopus cadherin-11 restrains cranial neural crest migration and influences neural crest specification. , 2001, Development.

[49]  C. Kay,et al.  Multiple cadherin extracellular repeats mediate homophilic binding and adhesion , 2001, The Journal of cell biology.

[50]  Kevin Truong,et al.  Cadherins in embryonic and neural morphogenesis , 2000, Nature Reviews Molecular Cell Biology.

[51]  T. Yagi,et al.  Cadherin superfamily genes: functions, genomic organization, and neurologic diversity. , 2000, Genes & development.

[52]  S. Taketani,et al.  Mutation analysis of cadherin-4 reveals amino acid residues of EC1 important for the structure and function. , 2000, Biochemical and biophysical research communications.

[53]  J. Schalken,et al.  Cadherin switching in human prostate cancer progression. , 2000, Cancer research.

[54]  U. Tepass Genetic analysis of cadherin function in animal morphogenesis. , 1999, Current opinion in cell biology.

[55]  S. Takeshita,et al.  Expression and Function of the Splice Variant of the Human Cadherin‐11 Gene in Subordination to Intact Cadherin‐11 , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[56]  D. Evans,et al.  Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. , 1999, Human molecular genetics.

[57]  S. Byers,et al.  Cadherin-11 is expressed in invasive breast cancer cell lines. , 1999, Cancer research.

[58]  M. Nakagawa,et al.  Teebi hypertelorism syndrome with tetralogy of Fallot. , 1998, American journal of medical genetics.

[59]  Wayne A. Hendrickson,et al.  Structure-Function Analysis of Cell Adhesion by Neural (N-) Cadherin , 1998, Neuron.

[60]  Anthony E. Reeve,et al.  E-cadherin germline mutations in familial gastric cancer , 1998, Nature.

[61]  M. Uchida,et al.  Teebi hypertelorism syndrome: further observations. , 1995, American journal of medical genetics.

[62]  Takayoshi Inoue,et al.  Cadherin-11 expressed in association with mesenchymal morphogenesis in the head, somite, and limb bud of early mouse embryos. , 1995, Developmental biology.

[63]  H. Toriello,et al.  Teebi hypertelorism syndrome: report of a third family , 1994, Clinical dysmorphology.

[64]  R. Kikuno,et al.  Molecular cloning and characterization of OB-cadherin, a new member of cadherin family expressed in osteoblasts. , 1994, The Journal of biological chemistry.

[65]  R. Stratton Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family. , 1991, American journal of medical genetics.

[66]  Teebi As New autosomal dominant syndrome resembling craniofrontonasal dysplasia , 1987 .

[67]  F. Jacob,et al.  Cell-cell interactions in early embryogenesis: A molecular approach to the role of calcium , 1981, Cell.

[68]  M. Takeichi,et al.  Remodeling of the adherens junctions during morphogenesis. , 2009, Current topics in developmental biology.

[69]  N. Guex,et al.  SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling , 1997, Electrophoresis.

[70]  M. Takeichi Morphogenetic roles of classic cadherins. , 1995, Current opinion in cell biology.