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missense

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Bibliographies

25

1 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

2 Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

3 Physical Association of Saccharomyces cerevisiae Polo-like Kinase Cdc5 with Chromosomal Cohesin Facilitates DNA Damage Response

4 Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

5 Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.

6 An association study between two missense variations of the benzodiazepine receptor (peripheral) gene and schizophrenia in a Japanese sample.

7 Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs.

8 Biallelic Missense Mutation in the Underlies Distal Arthrogryposis Type 5 (DA5D).

9 The CYSMA web server: an example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.

10 A Notch4 missense mutation is associated with susceptibility to tuberculosis in Chinese population

11 Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.

12 A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.

13 frequency and significance of the novel single nucleotide missense polymorphism val109asp in the human gene encoding omentin in caucasian patients with type 2 diabetes mellitus or chronic inflammatory bowel diseases

14 gene co-expression analyses differentiate networks associated with diverse cancers harbouring tp53 missense or null mutations

15 cortical synaptic transmission in cav2.1 knockin mice with the s218l missense mutation which causes a severe familial hemiplegic migraine syndrome in humans.

16 a novel heterozygous missense mutation in gnat1 leads to autosomal dominant riggs type of congenital stationary night blindness

17 band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak

18 novel missense variant in heterozygous state in the brpf1 gene leading to intellectual developmental disorder with dysmorphic facies and ptosis

19 saha (vorinostat) corrects inhibitory synaptic deficits caused by missense epilepsy mutations to the gabaa receptor γ2 subunit

20 antitumor activity of sorafenib and imatinib in a patient with thymic carcinoma harboring c-kit exon 13 missense mutation k642e

21 a novel missense mutation in the alphatropomyosin (tpm1) gene in a family affected with hypertrophic cardiomyopathy

22 transcriptional regulation of the abcc6 gene and the background of impaired function of missense disease-causing mutations

23 phenotype of usher syndrome type ii assosiated with compound missense mutations of c.721 c>t and c.1969 c>t in myo7a in a chinese usher syndrome family

24 the chemical chaperone, pba, reduces er stress and autophagy and increases collagen iv α5 expression in cultured fibroblasts from men with x-linked alport syndrome and missense mutations

25 Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease