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PubMed 28742244 Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error 1.36 KB 2019-09-23 28 13
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PubMed 28741757 Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. The closely related paralogues FOXP2 and FOXP1 encode transcription factors with 1.53 KB 2019-09-23 29 27
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PubMed 28739660 A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans. Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidne 1.29 KB 2019-09-23 28 16
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PubMed 28739325 D242N, a KV7.1 LQTS mutation uncovers a key residue for IKs voltage dependence. KV7.1 and KCNE1 co-assemble to give rise to the IKs current, one of the most important repolarizing currents of the card 1.66 KB 2019-09-23 28 42
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PubMed 28734073 Differential calcium sensitivity in NaV 1.5 mixed syndrome mutants. KEY POINTS: SCN5a mutations may express gain-of-function (Long QT Syndrome-3), loss-of-function (Brugada Syndrome 1) or both (mixed 2.8 KB 2019-09-23 29 11
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PubMed 28728825 Genetic Diseases of PIEZO1 and PIEZO2 Dysfunction. Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and PIEZO2 are responsible for multiple hereditary human diseases. Loss-o 992 Bytes 2019-09-23 28 36
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PubMed 28726812 A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib. PurposeHeterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen synd 1.58 KB 2019-09-23 28 18
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PubMed 28723893 In vivo CRISPR screening identifies Ptpn2 as a cancer immunotherapy target. Immunotherapy with PD-1 checkpoint blockade is effective in only a minority of patients with cancer, suggesting that additio 1.2 KB 2019-09-23 28 13
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PubMed 28720827 Small chaperons and autophagy protected neurons from necrotic cell death. Neuronal necrosis occurs during early phase of ischemic insult. However, our knowledge of neuronal necrosis is still inadequat 1.46 KB 2019-09-23 41 38
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PubMed 28717663 Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts. BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopath 2.22 KB 2019-09-23 31 9
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