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1 Affected individuals presented with variable skeletal abnormalities and neurodevelopmental defects.
4 by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma,
9 re described, with specific attention toward skeletal and electroactive tissues, such as cardiac, ner
10 cal disorders, cancer, organismal injury and skeletal and muscular disorders, as well as networks of
11 to the human phenotype of short stature and skeletal anomalies in a heterozygous Bmp2-knockout mouse
18 , along with the observed slight decrease in skeletal density, we conclude that there must be biochem
19 espite the very different functions of their skeletal derivatives in jaw support and sound transducti
20 of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the form
23 y disordered phosphoprotein, in chick embryo skeletal development, and using circular dichroism and m
24 terize various biophysical properties of the skeletal DHPR beta subunit beta1a Removal of the intrins
26 Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral
29 mTORC1 and autophagy in the pathogenesis of skeletal disorders and suggest potential therapeutic app
31 ling abnormalities have been associated with skeletal dysplasia in humans, and our findings present o
33 decreases SOX9 expression and causes a human skeletal dysplasia, identifying a mechanism that regulat
34 old, whereas GAC repeats are associated with skeletal dysplasias and expand from the normal five to a
35 cus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapp
36 haped cartilage structures (Meckel, ribs and skeletal elements in developing limbs), the transverse i
37 nt knowledge regarding the roles of Panx3 in skeletal formation and address the potential for new the
49 with peak growth at 90% of final height and skeletal maturity closely reflecting growth remaining.
51 rity standard with its close relationship to skeletal maturity represents a significant advance allow
54 fect zooplankton development, physiology and skeletal mineralization status, potentially reducing the
55 steonecrosis of the jaw, kidney dysfunction, skeletal morbidity rate (mean number of skeletal-related
58 ificant reductions in GU in multiple tissues-skeletal muscle (36.4%), liver (16.1%), brown adipose (2
59 iet and exercise weight-loss intervention on skeletal muscle (SM) mass and selected organs over 2 y u
60 protein phosphorylation that occur in mouse skeletal muscle 1 h after a bout of electrically evoked
61 me profiling of individual proteins in human skeletal muscle after a high-fat diet and resistance exe
62 s chemokine and cytokine expression in mouse skeletal muscle after exercise and facilitates molecular
63 esulted in significant lowering of blood and skeletal muscle ammonia, increase in lean body mass, imp
66 pression, restores SERCA function, mitigates skeletal muscle and cardiac pathology, improves muscle r
68 dine receptor ion channel RyR1 is present in skeletal muscle and has a large cytoplasmic N-terminal d
70 rst time the presence of ACSL6 mRNA in human skeletal muscle and the role that ACSL6 plays in lipid s
71 lin resistance to increase glucose uptake in skeletal muscle and therefore represents an important al
72 duced hypoglycemia affects glucose uptake in skeletal muscle and whether hypoglycemia counterregulati
73 ivity was higher, whereas sensitivity of the skeletal muscle and white adipose tissue was lower in HF
75 ay protect against the inflammation-mediated skeletal muscle atrophy which occurs in sarcopenia and c
76 NAs, miRs) have been shown to play a role in skeletal muscle atrophy, but their role is not completel
78 breakdown, and device failure of engineered skeletal muscle bio-bots as a result of degradation by t
80 a lower capacity for fatty acid oxidation in skeletal muscle biopsies, along with enhanced efficiency
81 stimulated glucose uptake in human and mouse skeletal muscle by blocking the translocation of GLUT4 t
82 is a key regulator of glucose metabolism in skeletal muscle by directly controlling the transcriptio
83 ein optic atrophy 1 (OPA1) in differentiated skeletal muscle by reducing OPA1 gene expression in an i
85 ABSTRACT: The maximum velocity at which a skeletal muscle can shorten (i.e. the velocity of slidin
86 ApN proves to be a powerful protector of the skeletal muscle capable of reversing the disease progres
87 small heat shock protein (HspB8) in ischemic skeletal muscle cells and enhanced ischemic muscle autop
88 odel of insulin-stimulated glucose uptake in skeletal muscle cells by implicating p41ARC as a new com
90 t that SIRT6 depletion in cardiac as well as skeletal muscle cells promotes myostatin (Mstn) expressi
91 In vitro (macrophages, endothelial cells, skeletal muscle cells under normal and hypoxia serum sta
92 of stem cell myogenesis (transformation into skeletal muscle cells) includes several stages character
96 ents of circadian enzyme activities in mouse skeletal muscle confirmed that such timing separation oc
98 er, characterization of the DNA methylome of skeletal muscle demonstrates numerous local methylation
101 Myoblast fusion is an indispensable step for skeletal muscle development, postnatal growth, and regen
105 is a common form of congenital nondystrophic skeletal muscle disease characterized by muscular weakne
106 EY POINTS: Fibrosis occurs secondary to many skeletal muscle diseases and injuries, and can alter mus
107 only help to unravel the molecular basis of skeletal muscle diseases, but also provide a roadmap for
108 yosin storage myopathy (MSM) is a congenital skeletal muscle disorder caused by missense mutations in
109 cise training in obese mice with cardiac and skeletal muscle disruption of the Autophagy related 7 ge
110 e that exhibits anti-inflammatory effects on skeletal muscle exposed to acute and chronic inflammatio
115 is a synapse formed between motoneurons and skeletal muscle fibers that is covered by Schwann cells
116 enes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and
119 ce that miR-29a and miR-29c are increased in skeletal muscle from patients with type 2 diabetes and a
121 nces, urge caution in applying CR to improve skeletal muscle function across the lifespan in humans.
127 ite cells (PSCs) are important for postnatal skeletal muscle growth, and Notch1 signaling pathway and
131 and longer term (8.5 and 18.5 months) CR on skeletal muscle in male and female C57Bl/6 and DBA/2 mic
133 ing computed tomography scans, we calculated skeletal muscle index (muscle area at the third lumbar v
134 These results demonstrate the importance of skeletal muscle inflammation in aging-mediated insulin r
141 mplement previous studies on ammonia-induced skeletal muscle loss and lay the foundation for prolonge
143 an body mass, improved grip strength, higher skeletal muscle mass and diameter, and an increase in ty
144 ostatin inhibition would improve recovery of skeletal muscle mass and function after cerebral ischemi
145 current RDA or twice the RDA (2RDA) affects skeletal muscle mass and physical function in elderly me
147 found that PGC1beta progressively decreases skeletal muscle mass predominantly associated with loss
148 generate a mechanically induced increase in skeletal muscle mass, but the mechanism(s) through which
149 of myostatin, a master negative regulator of skeletal muscle mass, was strongly increased in skeletal
150 stantly sensing and responding to changes in skeletal muscle metabolism induced by contractile activi
154 act myofibers were laser microdissected from skeletal muscle of 18 sIBM patients and analyzed by a se
155 ) similar to what is observed in contracting skeletal muscle of humans, and may be an important contr
156 se gene expression and enzymatic activity in skeletal muscle of mice in the corticosterone group rela
157 transition in fully activated fibers of fast skeletal muscle of the rabbit occurs during transition f
160 a-lowering therapy results in improvement in skeletal muscle phenotype and function and molecular per
164 ues, we hypothesized that OPG-Fc, a bone and skeletal muscle protector, acts synergistically with bet
165 mality in cirrhosis that results in impaired skeletal muscle protein synthesis and breakdown (proteos
169 lect nonsteroidal anti-inflammatory drugs or skeletal muscle relaxants (moderate-quality evidence).
173 ferative hematopoietic system, whereas TL in skeletal muscle represents a minimally replicative tissu
175 rformed clonal multicolor lineage tracing of skeletal muscle stem cells (MuSCs) to address these ques
177 e results provide an approach for generating skeletal muscle that is potentially applicable to other
178 ry aim of this study was to determine in rat skeletal muscle the influence of a brief (two weeks) HFD
179 ectly engages nutrient signaling pathways in skeletal muscle to maintain systemic glucose homeostasis
181 iated with CCL induces an anabolic effect in skeletal muscle undergoing regrowth after a period of at
182 3 transcript and protein expression in mouse skeletal muscle using Kcne3(-/-) tissue as a negative co
183 ts suggest that multi-faceted alterations to skeletal muscle venular function in OZR may contribute t
187 al interactions among various organs: liver, skeletal muscle, adipose tissue, brain, and the endocrin
189 rm this hypothesis by showing that, in human skeletal muscle, and in contrast to the current view, th
190 r in the liver, nervous system, heart, lung, skeletal muscle, and intestine and illustrate how macrop
191 e 6 (ACSL6) mRNA is present in human and rat skeletal muscle, and is modulated by nutritional status:
192 we have performed transcriptomic analysis in skeletal muscle, and plasma metabolomics from subjects w
195 acutely alter the DNA methylation profile of skeletal muscle, indicating that DNA methylation constit
197 gic receptors, which are mainly expressed in skeletal muscle, is significantly reduced in dystrophic
198 strate uptake and protein accretion rates in skeletal muscle, late gestation control (CON) (n = 8) an
200 ons in other metabolic tissues (e.g., liver, skeletal muscle, pancreas) through lipotoxicity and infl
202 energy and substrate metabolism in liver and skeletal muscle, resulting in hepatic ketogenesis and gl
204 selectively over-expressing PGC1beta in the skeletal muscle, we have found that PGC1beta progressive
206 body carnitine pool is primarily confined to skeletal muscle, where it regulates carbohydrate (CHO) a
207 ression of the cytokine unpaired 2 (Upd2) in skeletal muscle, which acts as a myokine to control gluc
208 TDP-43 pathology in cultured cells and mouse skeletal muscle, which can be cleared through an HSF1-de
209 ticular, damage to mitochondrial proteins in skeletal muscle, which is a loss of mitochondrial proteo
210 connective tissue growth factor by Pofut1 in skeletal muscle, with additional effects on alpha dystro
211 genic non-coding RNA with MyoD-regulated and skeletal muscle-restricted expression that promotes the
243 in red wine, improves exercise endurance and skeletal-muscle oxidative metabolism in animals and may
248 d to a synaptopathy characterized by ataxia, skeletal muscles weakness and numbness of the extremitie
259 nduce aging-related phenotypes in cis within skeletal myofibers and in trans within satellite cells a
260 r, premature postnatal deletion of Pofut1 in skeletal myofibers can induce aging-related phenotypes i
262 ut also provide a roadmap for recapitulating skeletal myogenesis in vitro from pluripotent stem cells
263 rome characterized by variable expression of skeletal, neurological, and immunological abnormalities.
267 the salamander limb including regulation of skeletal patterning during epimorphic regeneration, skel
269 ling in osteoblasts in vivo, we analyzed the skeletal phenotypes of mice lacking these receptors in o
270 n studies; (2) gene-function prediction; (3) skeletal phenotyping of 120 knockout mice with deletions
272 e identified that in disease-free bones this skeletal region contained smaller and less-oriented HA n
273 d the proportion of patients with at least 1 skeletal-related event by disease type, pain as assessed
274 12-week dosing group experienced at least 1 skeletal-related event within 2 years of randomization (
276 minobisphosphonate, reduces the incidence of skeletal-related events and pain in patients with bone m
277 ion, skeletal morbidity rate (mean number of skeletal-related events per year), and, in a subset of 5
278 icrobiota's osteoimmunomodulatory effects on skeletal remodeling and homeostasis are unclear in the h
280 e, appendicular lean soft tissue, and WB and skeletal site-specific BMC acquisition and to measure th
281 ssess the acquisition of whole-body (WB) and skeletal site-specific bone mineral content (BMC) relati
282 ng approach could be easily applied to other skeletal sites and transgenic models, and could improve
283 Collectively, these results suggest that skeletal sites prone to tumor cell dissemination contain
285 These findings provide insights into how skeletal stem and progenitor cells interact with other c
289 the maxilla to the mandible) seem to be the skeletal subspaces that receive the main effect of the t
290 r achieving specific functions, ranging from skeletal support to mastication, from sensors and defens
293 a close interrelationship between immune and skeletal systems and suggests an osteolytic role of IL-1
294 hanced activation of the cardiac TF over the skeletal TF by Ca(2+) and lead to a mechanistic model fo
295 l patterning during epimorphic regeneration, skeletal tissue differentiation during regeneration, and
299 stic value of the quantitative assessment of skeletal tumor burden on bone scintigraphy (Bone Scan In
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