ライフサイエンスコーパス: have been identified in

1 Gain-of-function mutations in Nav1.9 have been identified in three families with rare heritable pa

2 tered brain levels of glutamate and gamma-aminobutyric acid have been identified in both animal and human studies of depr

3 A site (int-1-GATA) of 5-aminolevulinate synthase 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA)

4 Approximately 200 BRAF mutant alleles have been identified in human tumours.

5 Human cytomegalovirus (CMV) antigens have been identified in GBM but not normal brain, providing a

6 hough numerous genetic factors contributing to autoimmunity have been identified in recent years, our knowledge on enviro

7 atient-derived missense variants that disrupt PALB2 binding have been identified in BRCA1 and BRCA2; however, there has n

8 15 different K2P channels have been identified in mammals and these channels perform im

9 s of theoretical permutations, limited subunit combinations have been identified in the brain.

10 otein-level adaptations to hypoxic high-altitude conditions have been identified in multiple terrestrial endotherms; howe

11 croscopic anatomical characteristics of the cerebral cortex have been identified in individuals affected by various neuro

12 Putative cancer stem cells (CSCs) have been identified in HNSCC, and BMI1 expression has been l

13 r the last three decades, mutations causing these disorders have been identified in almost 290 genes, but many patients s

14 Genetic variants of fucosyltransferase 2 (FUT2) have been identified in genome-wide association studies as ri

15 Point mutations in the BICD2 gene have been identified in patients with a dominant form of spin

16 logous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders.

17 and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (B

18 Although many imprinted genes have been identified in plants, the functions of these imprin

19 Imprinted genes have been identified in several animal species and are freque

20 Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignora

21 Many glycoproteins have been identified in myelin, and a lack of one myelin glyc

22 Several luciferases have been identified in nature, and many have been adapted fo

23 (MCUC) mediating Ca(2+)uptake into the mitochondrial matrix have been identified in mammals, including the channel-formin

24 Recently, traces of cancer-related miRs have been identified in body fluids, which make them remarkab

25 Five disease-causing variations in these motifs have been identified in ABCB4 (G535D, G536R, S1076C, S1176L,

26 Although approximately 200 mutations have been identified in pseudoxanthoma elasticum patients, th

27 Although several cardiomyopathy-causing mutations have been identified in cTnC, the limited information about t

28 Numerous mutations have been identified in the MyTH4-FERM tandems of these myosi

29 Given that WDR26 mutations have been identified in approximately 1 in 2,000 of subjects

30 Looming-sensitive neurons have been identified in diverse animal species.

31 Fermentative iron-reducing organisms have been identified in a variety of environments.

32 new study, previously unknown populations of wild date palm have been identified in remote areas of Oman.

33 ovecii and Pneumocystis carinii Potential orthologs of Pca1 have been identified in P. jirovecii Such cross-reactivity is

34 7 and Th1 cells (nTh17 and nTh1) with innate-like phenotype have been identified in the thymus that are distinct from con

35 ns in the X-linked myelin gene proteolipid protein 1 (PLP1) have been identified in humans.

36 Large numbers of single nucleotide polymorphisms have been identified in WRN.

37 s in the oligosaccharide-oligonucleotide (OB) folds of POT1 have been identified in many human cancers, but the mechanism

38 However, genes involved in this process have been identified in only two of five human-infecting spec

39 rms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile fun

40 neuron responding to moist air and its ionotropic receptor have been identified in Drosophila melanogaster.

41 Although HJ resolvases have been identified in all domains of life, there is a long-

42 crops were cultivated, but several domesticated subspecies have been identified in the archaeological record.

43 Rare missense variants within NMDAR subunits have been identified in numerous patients with mental or neur

44 ions definitively responsible for reduced PI susceptibility have been identified in individuals with virological failure

45 The rapidly expanding genetic defects that have been identified in patients with previously uncharacteri

46 nins (OKs) are prototypes of a family of neuropeptides that have been identified in several phyla.

47 Although none of the genetic variants that have been identified in previous genome-wide association stud

48 Quantitative trait loci (QTL) for O3 tolerance have been identified in model and crop species, and although

49 Forty-eight human ABC transporters have been identified in the genome, and the majority of these

50 Noncoding RNAs (ncRNAs) regulating virulence have been identified in most pathogens.