ライフサイエンスコーパス: homozygously

1 set form of neurodegeneration when inherited homozygously.

2 Exon 7 of the telSMN gene is homozygously absent in approximately 95% of SMA patients

3 The four homozygously affected sons of a consanguineous family di

4 ain expressing the D298G and N397I TLR4 SNPs homozygously, and characterized in vivo and in vitro res

5 m cells carrying the heterozygous Delta160E, homozygously corrected or homozygously introduced Delta1

6 and p53, mouse embryonic fibroblasts (MEFs) homozygously deficient for both atm and p53 were used to

7 Moreover, how resistance emerges in BRCA2 homozygously deleted (HomDel) CRPC is unknown.

8 Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that

9 The homozygously deleted are contained a new candidate tumor

10 gene were codeleted with INK4A in all of the homozygously deleted cases analyzed.

11 on; (ii) approximately 1% of the parents are homozygously deleted for both exons 7 and 8; (iii) one a

12 nslocation breakpoint, and exon 5 within the homozygously deleted fragile region.

13 Five of six products of the RDA were homozygously deleted from the tumor DNA.

14 tin remodeler, as one of the most frequently homozygously deleted genes in PCa, second only to PTEN i

15 In addition, we identified common homozygously deleted genes that have functions relevant

16 hosphodiesterase subtype 4D (PDE4D) gene was homozygously deleted in 198 cases of 5,569 primary solid

17 p15 was found to be homozygously deleted in 22% of the tumor derived cell li

18 We found that the locus D17S829 was homozygously deleted in 23 out of 70 patients, and ident

19 within the epicenter of the deletions and is homozygously deleted in 3.5% (7/200) of breast tumors.

20 Rhobtb2 is homozygously deleted in 3.5% of primary breast cancers,

21 ame set of samples, p16INK4a was found to be homozygously deleted in 32% of the tumor derived cell li

22 The p16/MTS1 gene was found to be homozygously deleted in 41.7% of tumors and methylated i

23 led that both p16(INK4a) and p15(INK4b) were homozygously deleted in a cheek pouch carcinoma cell lin

24 One of these, BE758-6, which was homozygously deleted in a number of colon carcinoma cell

25 DBC1), initially cloned from a region (8p21) homozygously deleted in breast cancers, forms a stable c

26 exons, as well as the entire XIST gene, were homozygously deleted in K562 cells using the Cas9 nuclea

27 However, cIAP1 and cIAP2 are recurrently homozygously deleted in multiple myeloma (MM), resulting

28 , including the fragile site locus FRA3B, is homozygously deleted in multiple tumor-derived cell line

29 ssor gene loci, most notably SMAD4, which is homozygously deleted in nearly one-third of cases.

30 Homozygously Deleted in Pancreatic Cancer 4 (DPC4), a re

31 portion of 22q11, which is heterozygously or homozygously deleted in pediatric rhabdoid tumors of the

32 s reported to span FRA3B and was shown to be homozygously deleted in several gastric and colonic tumo

33 ed to the human chromosome 3p21.3 region and homozygously deleted in small cell lung cancer cell line

34 ave constructed a physical map of the region homozygously deleted in the U2020 cell line at 3p12, inc

35 into one of the human lung cancer cell lines homozygously deleted in this region resulted in a very l

36 ort that the COOH-terminal region of BRG1 is homozygously deleted in two carcinoma cell lines, prosta

37 esentational difference analysis, which were homozygously deleted in various cancer cell lines were p

38 with MTAP in a glioma xenograft, and that is homozygously deleted in various malignant cell lines.

39 Genes homozygously deleted in WS are linked to sociability in

40 s of embryonic fibroblasts derived from mice homozygously deleted of the cyclin D1 gene (cyclin D1(-/

41 The telomeric SMN (SMN1) copy is homozygously deleted or converted in >95% of SMA patient

42 neurons (SMN) gene, the SMA disease gene, is homozygously deleted or mutated in more than 98% of SMA

43 3.3, was recently identified and found to be homozygously deleted or mutated in several different typ

44 synthetic lethal paralog partner SLC25A37 is homozygously deleted pan-cancer.

45 deleted in breast cancer), was cloned from a homozygously deleted region at human chromosome 8p21.

46 cancer-1 (DBC-1) was initially cloned from a homozygously deleted region in breast and other cancers

47 ion pattern of a human gene located within a homozygously deleted region of a metastatic prostate can

48 re found among the five genes located in the homozygously deleted region.

49 Three novel noncontiguous homozygously deleted regions were detected and ranged in

50 S126 marker at chromosome band 9p21 by using homozygously deleted tumor cell lines and fluorescence i

51 P) gene is located on 9p21 and is frequently homozygously deleted, along with p16(cdkN2a/ARF), in a w

52 t occur within 1p36, most known TSGs are not homozygously deleted, and biallelic inactivation of CDKN

53 signaling, which is rarely downregulated or homozygously deleted.

54 uct, suggesting that regions of the gene are homozygously deleted.

55 ker, suggesting that regions of the gene are homozygously deleted.

56 antage of a novel knock-in mouse strain that homozygously expresses two single-nucleotide polymorphis

57 ional AI4 T cells only developed in controls homozygously expressing NOD-derived H2(g7) molecules.

58 Finally, DNA challenge of PBMCs from donors homozygously expressing rs610913 provoked a trend toward

59 c.191dupA in exon 5 of ANO5 in 20 patients, homozygously in 15 and in compound heterozygosity with o

60 60.5:c.503A > G, p.(Asn168Ser) change, found homozygously in all of them.

61 man IRAK2, L392V (rs3844283), which is found homozygously in approximately 15% of Caucasians, to be a

62 In mouse lung tissue where BRG1 was homozygously inactivated, immunostaining for apoptotic m

63 E2-centered nine-SNP haplotype, when present homozygously, increases the risk for IGE (odds ratio 6.1

64 However, a non-truncating homozygously inherited missense mutation in a Bedouin fa

65 ozygous Delta160E, homozygously corrected or homozygously introduced Delta160E using genome editing a

66 c analyses show that all examined humans are homozygously inverted relative to the reference genome f

67 ed on the p.Met700Lys patient mutation, used homozygously (KI/KI) or combined with a knockout allele

68 er lenses, where native Cx46 was deleted and homozygously knocked into the Cx50 locus, displayed sign

69 On the other hand, mice that are homozygously lacking a normal E2F-1 gene develop cancers

70 omal region 3p21.3, which is hemizygously or homozygously lost in some breast cancer patients.

71 nsduction, only the negative TOV-112 and the homozygously mutated (MUT) MCF7 cells, but not the OV-90

72 Mice homozygously mutated in MITF showed a dramatic decrease

73 h after the gamma-irradiation (8 Gy) of p53 homozygously null animals.

74 lls, and we have also shown that female mice homozygously null for ALADIN are sterile.

75 rly slower than the cone-driven ERGs of mice homozygously null for arrestin (Arrestin -/-), whose con

76 F-1/CIP1 expression was not detected in mice homozygously null for p53.

77 antitated after irradiation of mice rendered homozygously null for the p53 gene.

78 ouse intestinal epithelia was assessed using homozygously null mice.

79 rom mice carrying S1 or S2 heterozygously or homozygously or in combination.

80 ansgenes and carrying either the rd mutation homozygously or the rhodopsin mutation heterozygously wa

81 Our experiments analyzing homozygously tagged embryonic stem cells and embryos dem

82 s of lymphocytes expressing DQB1*0601 chains homozygously were as high as those observed for cells ex