ライフサイエンスコーパス: protein deficiency

1 (SMN1) and retention of SMN2 leading to SMN protein deficiency.

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

3 order with genomic instability caused by WRN protein deficiency.

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

5 progressive neurodegeneration caused by ATM protein deficiency.

6 phology, and retinoid processing under STRA6 protein deficiency.

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

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

9 ling pathway is highly up-regulated due to E protein deficiency.

10 enucleation, creates these membrane-spanning protein deficiencies.

11 of abnormal dark adaptation include zinc and protein deficiencies.

12 for the treatment of inherited and acquired protein deficiencies.

13 he treatment of acquired and inherited serum protein deficiencies.

14 and potentially many other enzymopathies and protein deficiencies.

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

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

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

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

19 t61a gene in mouse CD4(+) T cells causes MYC protein deficiency and cell cycle arrest, disrupts T cel

20 rved frataxin (FXN) gene that results in FXN protein deficiency and mitochondrial dysfunction.

21 tocyte-intrinsic survival motor neuron (SMN) protein deficiency and/or subsequent to skeletal muscle

22 ngenital disorders resulting in pathological protein deficiencies are most often treated postnatally

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

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

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

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

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

28 We further demonstrated that AKT1 protein deficiency caused endoplasmic reticulum (ER) str

29 OZ protein (SPOP) gene (Speckle Type BTB/POZ Protein) deficiency caused significant BETi resistance,

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

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

32 to the treatment of subjects with inherited protein deficiency disorders, limiting the efficacy of b

33 -supplemented riboflavin results in systemic protein deficiency, driving various fitness-related defi

34 Mitochondrial trifunctional protein deficiency, due to mutations in hydratase subuni

35 Instead, ribosomal protein deficiency elicits proteotoxic stress, which we

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

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

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

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

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

41 d briefly discuss some roles of SNARE and SM protein deficiencies in human disease.

42 o other forms of NCL caused by transmembrane protein deficiencies in the future.

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

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

45 n human cellular models, correct progranulin protein deficiency in Grn(+/-) mouse brains, and reverse

46 LPS-responsive beige-like anchor (LRBA) protein deficiency in humans causes immune dysregulation

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

48 ISCU protein deficiency in patients results from muscle-speci

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

50 ential to treat metabolic diseases caused by protein deficiency, including propionic acidemia (PA), m

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

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

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

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

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

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

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

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

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

60 m cell transplantation (HSCT) have addressed protein deficiencies of extra-hematopoietic origin.

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

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

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

64 As most bison currently experience protein deficiency, optimizing protein intake under curr

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

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

67 Augmenter of liver regeneration protein deficiency promotes hepatic steatosis by inducin

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

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

70 The protein deficiency responsible for each syndrome has bee

71 Dietary protein deficiency results in diminished capacity of the

72 MCM protein deficiency results in genome instability and hig

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

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

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

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

77 gy increases the harm inflicted by ribosomal protein deficiency, suggesting that these activities cou

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

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

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

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

82 ary angioedema (HAE), caused by C1 inhibitor protein deficiency, was recently shown to be associated

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

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

85 Heme protein deficiencies were exacerbated in the iron-loaded

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

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

88 n incurable disease caused by frataxin (FXN) protein deficiency, which is mostly induced by GAA repea