ライフサイエンスコーパス: protein deficiency

1 progressive neurodegeneration caused by ATM protein deficiency.

2 phology, and retinoid processing under STRA6 protein deficiency.

3 gesting it is a common response to ribosomal protein deficiency.

4 and excludes critical codons, causing an SMN protein deficiency.

5 success of gene-based treatment of inherited protein deficiency.

6 order with genomic instability caused by WRN protein deficiency.

7 is a premature aging disorder caused by WRN protein deficiency.

8 enucleation, creates these membrane-spanning protein deficiencies.

9 of abnormal dark adaptation include zinc and protein deficiencies.

10 for the treatment of inherited and acquired protein deficiencies.

11 he treatment of acquired and inherited serum protein deficiencies.

12 mal gene PIGA is known to cause GPI-anchored protein deficiency, 2 such hits are required in the auto

13 ough its precise functions are unknown, WFS1 protein deficiency affects the unfolded protein response

14 acyl CoA oxidase deficiency and bifunctional protein deficiency--also accumulate VLCFA, but they pres

15 Previous research has suggested that dietary protein deficiency alters resistance to experimental pul

16 s three phenotypes of neuronal stomatin-like protein deficiency as follows: volatile anesthetic sensi

17 stimate global and country-specific risks of protein deficiency attributable to anthropogenic CO2 emi

18 world's population may be placed at risk of protein deficiency because of eCO2.

19 n in the Abcc6 transcript that gives rise to protein deficiency both in vivo and in vitro.

20 human leukemia cells recapitulated the MSH2 protein deficiency by enhancing MSH2 degradation, leadin

21 that occur in weaned-mouse models of zinc or protein deficiency compared with well-nourished controls

22 Small Cab-like protein deficiency did not significantly affect photoinh

23 ein B transgenic mice, phospholipid transfer protein deficiency enhances reactive oxygen species-depe

24 However, following infection, protein deficiency exerted a profound effect on T-cell d

25 ution causes a TNNI3K aggregation defect and protein deficiency, implicating a dominant-negative loss

26 the study of the possible roles of ribosomal protein deficiencies in chromosomal and Mendelian disord

27 protein sorting is one mechanistic basis for protein deficiencies in HE and HS.

28 ate the consequences of p53 tumor suppressor protein deficiency in a tissue-specific context.

29 termination at codon 684, in turn leading to protein deficiency in DCC-susceptible mouse tissue as we

30 her and how much survival motor neuron (SMN) protein deficiency in muscle contributes to the pathophy

31 ISCU protein deficiency in patients results from muscle-speci

32 ATZ is inefficiently secreted, resulting in protein deficiency in the lungs and toxic polymer accumu

33 s study was to elucidate the role of mTOR in protein deficiency-induced pancreatic dysfunction.

34 ased on the specific red blood cell membrane protein deficiencies involving spectrin, ankyrin, band 3

35 GPI anchor protein deficiency is almost always due to somatic mutat

36 Willebrand disease (VWD), and other clotting protein deficiencies lead to significant morbidity in th

37 l of motor neuron 1 (SMN1) and resulting SMN protein deficiency manifests predominantly with motor ne

38 essing and that mutational spectra caused by protein deficiencies may be more intermediate-specific t

39 bly identify tumors with DNA mismatch repair protein deficiency (MMR-D) on the basis of increased mut

40 N-gamma production because of STAT4 mRNA and protein deficiency occurs after autologous stem cell tra

41 Apaf-1 protein deficiency occurs in human leukaemic blasts and

42 confirmed frequent inactivating mutations or protein deficiency of ARID1A, which encodes a member of

43 P1 clone corrects the purine auxotrophy and protein deficiency of Chinese hamster ovary (CHO) cell m

44 Having previously detailed the effects of protein deficiency on both microbiome and metabolome in

45 extent than does Fas-associated death domain protein deficiency or another viral FLIP, E8.

46 gate formation of Sph1 and suggest that Sac3 protein deficiency or overproduction may facilitate aggr

47 he DKO mice are due mainly to HIP1 and HIP1r protein deficiency rather than altered expression of nei

48 nor" collagen genes may be expressed through protein deficiency rather than through incorporation of

49 The protein deficiency responsible for each syndrome has bee

50 Dietary protein deficiency results in diminished capacity of the

51 MCM protein deficiency results in genome instability and hig

52 ers early in development suggesting that SMN protein deficiency results in retarded muscle growth.

53 ue to either an autoantibody or a regulatory protein deficiency, sets up a procoagulant state in thes

54 compared with XLP caused by SLAM-Associated Protein deficiency (SH2D1A mutation), XIAP deficiency wa

55 yndrome, the phenotype associated with SURF1 protein deficiency should be extended to include leukody

56 lds a distorted genetic output and selective protein deficiencies that differ from those seen in EKLF

57 rat chromosome 1 and of vitamin K-dependent protein deficiencies to the syntenic region of human chr

58 iPSC lines, genetic correction of ribosomal protein deficiency via complementary DNA transfer into t

59 Tumor MMR-protein deficiency was detected in 170 (24%) of 702 case

60 Here, we assessed whether WAS protein deficiency (WASp deficiency) affects the establi

61 patients with hemophilia or other inherited protein deficiencies, we have developed a prophylactic p

62 Heme protein deficiencies were exacerbated in the iron-loaded

63 ribute to HLH development in SLAM-Associated Protein deficiency were not observed in XIAP deficiency.

64 ts exhibit tracheal occlusion and surfactant protein deficiency, whereas fibroblast growth factor rec