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PubMed 28627419 ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons. The Aristaless-relate 1.92 KB 2019-09-23 28 21
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PubMed 28472301 New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. CACNA1D encodes the pore-forming α1-subunit of Cav1.3, an L-type voltage-gated Ca2+-c 1.91 KB 2019-09-23 28 19
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PubMed 19917135 Elevated expression of p53 gain-of-function mutation R175H in endometrial cancer cells can increase the invasive phenotypes by activation of the EGFR/PI3K/AKT pathway. BACKGROUND: p53 is the most comm 1.68 KB 2019-09-23 31 70
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PubMed 24356649 Spliced MDM2 isoforms promote mutant p53 accumulation and gain-of-function in tumorigenesis. The tumour suppressor p53 is frequently mutated in tumours. Mutant p53 (Mutp53) proteins often gain new act 1.15 KB 2019-09-23 47 17
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PubMed 27975164 Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection. Aortic dissection (AD) is a devastating, heterogeneous condition of aorta. The homeost 1.84 KB 2019-09-23 30 11
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PubMed 30038024 Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity. SLC30A8 encodes a zinc transporter that is primarily expressed in the pancreatic islets of L 998 Bytes 2019-09-23 29 27
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PubMed 25915599 Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. A typical human exome harbors dozens of loss-of-function (LOF) var 1.15 KB 2019-09-23 32 14
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PubMed 29367674 Tryptophan hydroxylase (TRH) loss of function mutations induce growth and behavioral defects in Daphnia magna. Tryptophan hydroxylase (TRH) is the rate limiting enzyme in the serotonin synthesis. CRIS 1.46 KB 2019-09-23 36 30
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PubMed 29121062 Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion. Immune evasion is a well-recognized hallmark of cancer and rece 2.05 KB 2019-09-23 27 27
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PubMed 29935645 Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations. OBJECTIVE: To study the functional properties of six nove 1.84 KB 2019-09-23 28 52
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