ELIZA

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611425 occurrences (No.13 in the rank) during 5 years in the PubMed. [cache]

267) Collectively, our data increase the understanding of the genetic landscape of rhabdomyolysis to now include MLIP as a novel disease gene in humans and solidifies MLIP's role in normal and diseased skeletal muscle homeostasis.

--- ABSTRACT ---

PMID:34581780 DOI:10.1093/brain/awab275

2021 Brain : a journal of neurology

* MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.

- Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps to shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals in six families from different ethnic backgrounds with biallelic variants in MLIP, which encodes the muscular lamin A/C-interacting protein, MLIP. Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels. The biallelic truncating variants were predicted to result in disruption of the nuclear localizing signal of MLIP. Additionally, reduced overall RNA expression levels of the predominant MLIP isoform were observed in patients' skeletal muscle. Collectively, our data increase the understanding of the genetic landscape of rhabdomyolysis to now include MLIP as a novel disease gene in humans and solidifies MLIP's role in normal and diseased skeletal muscle homeostasis.

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(1)204 in	(7)5 was	(13)3 health	(19)2 range
(2)67 the	(8)4 their	(14)3 on	(20)2 significantly
(3)31 of	(9)4 with	(15)2 null	(21)2 tumor
(4)8 our	(10)3 PrEP	(16)2 by
(5)6 risk	(11)3 access	(17)2 muscle
(6)5 and	(12)3 from	(18)2 over

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--- WordNet output for increase --- =>大きくなる, を増す, 増大させる, 強まる, 増加, 増える, 増やす Overview of noun increase The noun increase has 5 senses (first 5 from tagged texts) 1. (49) addition, increase, gain -- (a quantity that is added; "there was an addition to property taxes this year"; "they recorded the cattle's gain in weight over a period of weeks") 2. (21) increase -- (a change resulting in an increase; "the increase is scheduled for next month") 3. (7) increase, increment, growth -- (a process of becoming larger or longer or more numerous or more important; "the increase in unemployment"; "the growth of population") 4. (3) increase, increment -- (the amount by which something increases; "they proposed an increase of 15 percent in the fare") 5. (3) increase, step-up -- (the act of increasing something; "he gave me an increase in salary") Overview of verb increase The verb increase has 2 senses (first 2 from tagged texts) 1. (86) increase -- (become bigger or greater in amount; "The amount of work increased") 2. (61) increase -- (make bigger or more; "The boss finally increased her salary"; "The university increased the number of students it admitted") --- WordNet end ---