ライフサイエンスコーパス: cutis laxa

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1 properties of the elastin protein (dominant cutis laxa).

2 ompliance, severe emphysema, and loose skin (cutis laxa).

3 ement in patients with post-Sweet's syndrome cutis laxa.

4 ibulin 5 mutations cause autosomal-recessive cutis laxa.

5 All patients had cutis laxa.

6 subtypes of Ehlers-Danlos syndrome (EDS) and cutis laxa.

7 d diseases supravalvular aortic stenosis and cutis laxa.

8 s 1-5 in fibroblasts from five patients with cutis laxa.

9 ion and cause the connective tissue disorder cutis laxa.

10 otype, the rare autosomal dominant condition cutis laxa.

11 Congenital cutis laxa, a rare syndrome with marked skin laxity and

12 heterozygous mutation in fibulin-5 can cause cutis laxa and also suggest that fibulin-5 and elastin g

13 bulin-5 with features of autosomal recessive cutis laxa and marked defects in elastic fiber formation

14 Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance.

15 Cutis laxa (CL) is a condition characterized by redundan

16 Cutis laxa (CL) is a heterogeneous group of genetic and

17 , age-related macular degeneration (AMD) and cutis laxa (CL), but the biochemical basis for the patho

18 y of diseases, ranging from retinopathies to cutis laxa (CL).

19 r data provide insights into the etiology of cutis laxa diseases and will have immediate impact on di

20 in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmon

21 The pathogenesis of cutis laxa in this condition is poorly understood.

22 Cutis laxa is a condition characterized by redundant, pe

23 Inherited cutis laxa is a connective tissue disorder characterized

24 Acquired cutis laxa is a rare cutaneous manifestation of hematolo

25 ructural differences for the disease-causing cutis laxa mutants and for one AMD variant (G412E), sugg

26 Both cutis laxa mutants increased dimerization.

27 tosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the huma

28 We conclude that recessive cutis laxa mutations in fibulin-5 result in misfolding,

29 istological analysis of skin sections from a cutis laxa patient with a homozygous S227P mutation show

30 itative defects in elastin, resulting in the cutis laxa phenotype.

31 c recoil in affected tissues and explain the cutis laxa phenotype.

32 tion disease (HCDD) associated with acquired cutis laxa, renal involvement, and hypocomplementemia an

33 This phenotype, which resembles the cutis laxa syndrome in humans, reveals a critical functi

34 clinical and molecular spectrum of metabolic cutis laxa syndromes and further link defective extracel

35 ic fibers, the histopathological hallmark of cutis laxa, transmission electron microscopy of the derm

36 protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C.

37 Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and deve

38 collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3).

39 r elastogenesis, lead to autosomal recessive cutis laxa types 1B and 1A, respectively.

40 ne fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneury

41 tance, and a family with autosomal recessive cutis laxa was recently reported to have a homozygous mi

42 gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single

43 mpaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing mis

44 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features.

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