ライフサイエンスコーパス: recessively

1 that affect MITF dimerization are inherited recessively.

2 , and seed-infertility QTL act additively or recessively.

3 ion that is expressed dominantly rather than recessively.

4 heterozygous mutations have been identified, recessively acting ABCC8 mutations have recently been fo

5 isease transfer model allowed the mapping of recessively acting B6 genetic loci that in the proper co

6 However, identification of possible recessively acting B6-derived susceptibility genes is li

7 ternal UPD of chromosome 11, which unmasks a recessively acting gain-of-function mutation in the ABCC

8 in B6 mice harbors a previously unrecognized recessively acting gene(s) that can promote autoreactive

9 ous dominant negatively-acting mutations and recessively-acting loss-of-function mutations.

10 A mutation at this locus acts recessively and causes an early onset polycystic kidney

11 ed a cohort of nine families with DEB (seven recessively and two dominantly inherited) by a mutation

12 y known as fish-odour syndrome, is inherited recessively as a defect in hepatic N-oxidation of dietar

13 Multiple MYH9 SNPs and haplotypes were recessively associated with FSGS, most strongly a haplot

14 AP1 p.Asp575Asn and p.Arg725Gln alterations, recessively conferred disease risk.

15 Seed infertility QTL act additively or recessively, consistent with findings in other systems w

16 Inherited autosomal recessively, either two copies of Hb S or one copy of Hb

17 ummary, the Gy mutation is associated with a recessively expressed mutation of the spermine synthase

18 The recessively expressed phenotype is associated with inher

19 the mutant C99 to generate Abeta, leading to recessively inherited AD.

20 to generate amyloid beta protein, leading to recessively inherited Alzheimer's disease (AD).

21 those Repeat Expansion Diseases that are not recessively inherited and are caused by repeats that are

22 Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder with hig

23 specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Toot

24 We also identify the molecular cause of recessively inherited black coat color in hamsters (hist

25 molysis bullosa is a heterogeneous autosomal recessively inherited blistering skin disorder associate

26 family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting befo

27 utant mice (pcd/pcd), a model of adult-onset recessively inherited cerebello-olivary atrophy, in an a

28 mutation in Egr2, observed in patients with recessively inherited Charcot-Marie-Tooth (CMT) disease

29 ations in this gene are responsible for four recessively inherited chondrodysplasias that include dia

30 Ellis-van Creveld syndrome, an autosomal recessively inherited chondrodysplastic dwarfism, is fre

31 tem neurological disease was associated with recessively inherited compound heterozygous mutations wi

32 Blindness enlarged globe (beg) is a recessively inherited condition of chickens characterize

33 clinically and genetically diverse group of recessively inherited conditions ranging from the most s

34 The combination of recessively inherited cone-rod dystrophy (CRD) and amelo

35 cetylcholine receptor (AChR) deficiency is a recessively inherited congenital myasthenic syndrome in

36 However, recessively inherited congenital polycythemia, exemplifi

37 In families with recessively inherited deafness, DFNB37, our sequence ana

38 mbined with a second mutation, resulted in a recessively inherited DEB phenotype.

39 Recessively inherited defects are known for most of the

40 are lysosomal storage disorder caused by the recessively inherited deficiency of glucocerebrosidase.

41 We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encod

42 Instead, Cln3( Deltaex7/8) mice displayed recessively inherited degenerative changes in retina, ce

43 rea receptor (SUR)-1 cause one of the severe recessively inherited diffuse forms of congenital hyperi

44 Gaucher disease is an autosomal recessively inherited disease caused by mutations at the

45 Fanconi anemia is a recessively inherited disease characterized by congenita

46 Studies of the rare autosomal recessively inherited disease sitosterolemia (OMIM 21025

47 Patients with the recessively inherited disorder ataxia telangiectasia (A-

48 Glycogenosis type II is a recessively inherited disorder caused by mutations in th

49 eckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilatera

50 chman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine

51 Sitosterolemia is a rare, recessively inherited disorder characterized by increase

52 Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by recurren

53 Crigler-Najjar syndrome is a recessively inherited disorder characterized by severe u

54 Knobloch syndrome is a rare, recessively inherited disorder classically characterized

55 on for familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation localized

56 ausing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation.

57 in-1 are associated with Kindler syndrome, a recessively inherited disorder that is characterized by

58 Sitosterolemia is a recessively inherited disorder that results from mutatio

59 oid-lipofuscinosis and CLN3, is an autosomal recessively inherited disorder that results in blindness

60 Pendred syndrome is a recessively inherited disorder with the hallmark feature

61 Joubert syndrome (JS) is a rare recessively inherited disorder, with mutations reported

62 lmonary veno-occlusive disease, an autosomal recessively inherited disorder.

63 Here, we resolve the genetic basis of this recessively inherited disorder.

64 anifestation of Fanconi anemia (FA), a rare, recessively inherited disorder.

65 9) gene in four consanguineous families with recessively inherited early-onset CRD.

66 pedigree supporting the identification of a recessively inherited early-onset feline PRA.

67 al transmembrane protein stargazin result in recessively inherited epilepsy and ataxia in "stargazer"

68 mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conf

69 A more severe, recessively inherited form (CNA2; MIM 217300) and a mild

70 A recessively inherited form of early-onset dystonia DYT16

71 fied three unrelated individuals with a rare recessively inherited form of EDS (characterized by join

72 Congenital atrichia is a rare, recessively inherited form of hair loss affecting both m

73 Oguchi disease is a recessively inherited form of stationary night blindness

74 opes are yet to be met, but the study of the recessively inherited forms of OI has illuminated the de

75 We describe a recessively inherited frontonasal malformation character

76 DJ-1 has been identified as one of several recessively inherited genes whose mutation can cause fam

77 Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ

78 Autosomal recessively inherited glucocerebrosidase 1 (GBA1) mutati

79 ng revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations.

80 stand the differences between dominantly and recessively inherited inactivating KATP mutations, we ha

81 for the disease gene underlying autosomally recessively inherited infantile onset spinocerebellar at

82 lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fe

83 s the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malform

84 A subgroup of CMS patients have a recessively inherited limb-girdle pattern of weakness ca

85 t this architecture could involve a role for recessively inherited loci for this autism subgroup.

86 type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3

87 TRDN as a novel underlying genetic basis for recessively inherited LQTS.

88 Studies in families with recessively inherited mitochondrial trifunctional protei

89 d consanguineous families who presented with recessively inherited moderate-severe intellectual disab

90 Vici syndrome is a recessively inherited multisystem disorder characterized

91 three patients from one family with a novel recessively inherited mutation, 99C>G (predicted to caus

92 Patients with recessively inherited mutations had a more severe phenot

93 All nine patients carried recessively inherited mutations in CECR1 (cat eye syndro

94 CMT4B is caused by recessively inherited mutations in either myotubularin-r

95 Recessively inherited mutations in parkin, DJ-1, and PIN

96 a recognizable phenotype caused by autosomal recessively inherited mutations in the BEST1 gene.

97 A deficiency of GAA is responsible for a recessively inherited myopathy and cardiomyopathy, glyco

98 ficiency of this enzyme is responsible for a recessively inherited myopathy and cardiomyopathy, glyco

99 on in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline

100 consanguineous family segregating autosomal recessively inherited neonatal diabetes and the identifi

101 e analyses of families segregating autosomal recessively inherited neonatal diabetes, craniosynostosi

102 e neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that fea

103 Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder charact

104 Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder charact

105 a (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder charact

106 ophy (SMA) is a relatively common, autosomal recessively inherited neurodegenerative disorder that ma

107 GNE Myopathy is a rare recessively inherited neuromuscular disorder caused by m

108 recently been identified in individuals with recessively inherited nonsyndromic severe myopia.

109 CRTAP and LEPRE1 genes in severe/lethal and recessively inherited osteogenesis imperfecta has provid

110 DJ-1, which is linked to recessively inherited Parkinson's disease when mutated,

111 ssense mutation in DJ-1 results in autosomal recessively inherited Parkinson's disease, suggesting th

112 Parkin or PINK1 are the most common cause of recessively inherited parkinsonism.

113 Here, we identify recessively inherited pathogenic variants in CIT as the

114 Here we report a recessively inherited PIEZO2-related disease and demonst

115 Using the cpk mouse model of recessively inherited polycystic kidney disease, we obse

116 and is a compound heterozygote for autosomal-recessively inherited premature termination codons of tr

117 so known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder character

118 ro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic dis

119 ded at the pvr1 locus in Capsicum results in recessively inherited resistance against several potyvir

120 hosphodiesterase gene (beta PDE) can cause a recessively inherited retinal degeneration in several sp

121 S) rat is a widely studied, classic model of recessively inherited retinal degeneration in which the

122 The RCS rat is a widely studied model of recessively inherited retinal degeneration.

123 his gene among three unrelated patients with recessively inherited retinitis punctata albescens.

124 en reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt

125 ion in the RK gene causing Oguchi disease, a recessively inherited retinopathy.

126 ouse models, baringo, nice, and stitch, with recessively inherited sensorineural deafness due to nove

127 oracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterize

128 red Pakistani family with a distinct form of recessively inherited spondyloepimetaphyseal dysplasia (

129 -Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia c

130 have recently reported a suspected autosomal recessively inherited syndrome of hepatic cirrhosis, dys

131 lly between individuals with these autosomal recessively inherited syndromes and individuals with ABC

132 A kindred with a rare, recessively inherited type of alopecia universalis was u

133 q22.3 as a novel type of mutation underlying recessively inherited UCMD in 2 families.

134 A recessively inherited variant, the mitis type of DEB (M-

135 y for a novel mutation in WFS1, the gene for recessively inherited Wolfram syndrome.

136 The Belgrade (b) rat has an autosomal recessively inherited, microcytic, hypochromic anemia as

137 Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorde

138 polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorde

139 Crigler-Najjar syndrome type 1 (CN-1) is a recessively inherited, potentially lethal disorder chara

140 units, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherite

141 Batten's disease, one of the most common recessively inherited, untreatable, neurodegenerative di

142 nemia D and periodic fever syndrome are both recessively inherited, while three dominantly inherited

143 mal renal tubular acidosis (pRTA) is a rare, recessively-inherited disease characterized by abnormall

144 FAS impair Fas-dependent apoptosis and cause recessively or dominantly inherited autoimmune lymphopro

145 isolated four point mutations in dronc that recessively suppress the eye ablation phenotype caused b

146 These loci are autosomal and isolation acts recessively; the fertilization incompatibility is caused

147 Mutations in DJ-1 cause recessively transmitted early-onset Parkinson disease (P

148 ant trait in humans, cherubism appears to be recessively transmitted in mice, suggesting the existenc

149 me, which causes cardiac arrhythmia, and the recessively transmitted Jervell and Lange-Nielsen syndro

150 gunin causes spongiform neurodegeneration, a recessively transmitted prion-like disease in mice.