Export 69 results:
Author Title [ Year(Asc)]
Filters: Keyword is Mice  [Clear All Filters]
Charlton, J. R. et al. Beyond the tubule: pathological variants of , encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol 319, F988-F999 (2020).
Gonzaga-Jauregui, C. et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Wenderski, W. et al. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A 117, 10055-10066 (2020).
Pravata, V. M. et al. A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett 594, 717-727 (2020).
Bootpetch, T. C. et al. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).
Jones, L. K. et al. A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development 147, (2020).
Bustamante-Marin, X. M. et al. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet 16, e1008691 (2020).
Connaughton, D. M. et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 107, 727-742 (2020).
Martin, P. B. et al. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun 11, 4625 (2020).
Zilmer, M. et al. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 143, 1114-1126 (2020).
Tsai, M. - H. et al. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron 106, 237-245.e8 (2020).
Coulter, M. E. et al. Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med 22, 1040-1050 (2020).
Yi, J. - S., Perla, S., Enyenihi, L. & Bennett, A. M. Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines. JCI Insight 5, (2020).
Duerrschmid, C. et al. Asprosin is a centrally acting orexigenic hormone. Nat Med 23, 1444-1453 (2017).
Mace, E. M. et al. Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest 127, 306-320 (2017).
Lardelli, R. M. et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).
Sgourdou, P. et al. Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep 7, 43708 (2017).
Vivante, A. et al. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol 28, 2364-2376 (2017).
Sanna-Cherchi, S. et al. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet 101, 789-802 (2017).
Lopez-Rivera, E. et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376, 742-754 (2017).
Wang, X. et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet 49, 613-617 (2017).
Besse, W. et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest 127, 1772-1785 (2017).
Braun, D. A. et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49, 1529-1538 (2017).
Lovric, S. et al. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 127, 912-928 (2017).
Zou, Y. et al. P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet 26, 2207-2217 (2017).