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# proj.
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# Ann.
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| @dpavot |
26626801 |
The 21 genes comprised 8 tumor suppressor candidates (ATM, MSH2, PIK3R1, PTCH1, PTEN, TET2, TP53, and TSC1) and 13 oncogene candidates (ALK, BCL9, CTNNB1, ERBB2, FGFR2, FLT3, HNF1A, KIT, MTOR, PDGFRA, |
229 Bytes |
2020-02-26 |
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26715604 |
Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six recently identified monogenic diseases: EPG5-related Vici syndro |
509 Bytes |
2020-02-26 |
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| @dpavot |
26944031 |
Mosaicism was identified for autosomal dominant (JAG1, COL3A1), autosomal recessive (PYGM), and X-linked (PHKA2, PDHA1, OTC, and SLC6A8) disorders. |
147 Bytes |
2020-02-26 |
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| @dpavot |
27193597 |
Mining GWAS databases revealed association of cis-eSNPs for more than 50 genes with T2D (e.g. PIK3C2A, RBMS1, UFSP1), gluco-metabolic phenotypes (e.g. INPP5E, SNX17, ERAP2, FN3KRP), and obesity (e.g. |
213 Bytes |
2020-02-26 |
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27585752 |
In the present study, we first analyzed two expression quantitative trait loci (eQTL) datasets in healthy individuals and investigated the associations of eQTL of AHI1 with schizophrenia in independen |
219 Bytes |
2020-02-26 |
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27693232 |
Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephal |
298 Bytes |
2020-02-21 |
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27807832 |
TNFAIP8 mRNA is induced by NF-kB, and overexpression of TNFAIP8 has been correlated with poor prognosis in many cancers.
Depending on the tumor cell type, knockdown of TNFAIP8 was found to be assoc |
488 Bytes |
2020-02-26 |
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27827380 |
While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carriers of functional null mutations displayed subtle enamel pitting in the absence of skin fragility or |
219 Bytes |
2020-02-26 |
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27840944 |
As poor differentiation and low apoptosis are closely associated with poor survival rates and a poor response to radio/chemotherapy in patients with cancer, the prognostic value of Dec1 expression was |
337 Bytes |
2020-02-26 |
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28409271 |
Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the c |
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2020-02-26 |
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