Results 41 to 50 of about 194,178 (304)

Phenotypic cliffs in the RNA genotype–phenotype map

Journal of the Royal Society Interface
Abstract Point mutations of a genotype can leave the phenotype unchanged, or change it, in some cases radically. The extent of this phenotypic change can critically impact fitness. To investigate the range of possible phenotypic changes that result from point mutations, we analyse the structure of the well-established RNA genotype ...
Paula García-Galindo, Sebastian Ahnert
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Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

The phenotype of loneliness [PDF]

European Journal of Developmental Psychology, 2012
Goossens' (in press) review nicely maps the progression of scientific research from its early focus on loneliness as a dysphoric state that results from the discrepancy between a person's ideal and actual social relationships to its current emphasis on the centrality of loneliness to our very nature as a social species, and he argues that developmental
Cacioppo John T., Cacioppo Stephanie
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Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Activin E is a new guardian protecting against hepatic steatosis via inhibiting lipolysis in white adipose tissue

Experimental and Molecular Medicine
Hepatic endoplasmic reticulum (ER) stress is implicated in the development of steatosis and its progression to nonalcoholic steatohepatitis (NASH). The ER in the liver can sustain metabolic function by activating defense mechanisms that delay or prevent ...
Shi-Young Park, Yoonil Cho, Sae-Mi Son, Jang Ho Hur, Yeongmin Kim, Hyunhee Oh, Hui-Young Lee, Sungwon Jung, Sanghee Park, Il-Young Kim, Se-Jin Lee, Cheol Soo Choi   +11 more
doaj   +1 more source

DEL phenotype [PDF]

Immunohematology, 2017
Abstract DEL red blood cells (RBCs) type as D– by routine serologic methods and are transfused routinely, without being identified as expressing a very weak D antigen, to D– recipients. DEL RBCs are detected only by adsorption and elution of anti-D or by molecular methods. Most DEL phenotypes have been reported in
Dong H, Kwon, S G, Sandler, Willy A, Flegel   +2 more
openaire   +2 more sources

Effectiveness of Resistance Intradialytic Exercise Compared to Aerobic Intradialytic Exercise for Patients With Chronic Kidney Disease: A Randomized Controlled Clinical Trial

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Patients with chronic kidney disease undergoing hemodialysis commonly experience reduced physical function, fatigue, poor sleep quality, and impaired health‐related quality of life. Intradialytic exercise has been proposed as a non‐pharmacological strategy to improve these outcomes.
Klebson da Silva Almeida, Gisela Cristiane Miyamoto, Daniel da Costa Torres, Ian Setubal Reis Chaves, Jonas do Carmo Paschoalin, Braúlio Lima Nascimento, Luciana Dias Chiavegato   +6 more
wiley   +1 more source

Analysis of Shoot Architecture Traits in Edamame Reveals Potential Strategies to Improve Harvest Efficiency

Frontiers in Plant Science, 2021
Edamame is a type of green, vegetable soybean and improving shoot architecture traits for edamame is important for breeding of high-yield varieties by decreasing potential loss due to harvesting.
Kshitiz Dhakal, Qian Zhu, Bo Zhang, Mao Li, Song Li   +4 more
doaj   +1 more source

Serum Myonectin Levels Are Positively Associated With Physical Function and Lower Frailty‐Related Limitation in Maintenance Hemodialysis Patients: A Cross‐Sectional Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Maintenance hemodialysis (MHD) patients frequently suffer from frailty, characterized by reduced physical function and poor prognosis. Myokines, such as myonectin, secreted by muscle, are emerging regulators of systemic health. This study investigated the relationship between serum myonectin, adipokines (adiponectin, omentin), and ...
Kenichi Kono, Yoshifumi Moriyama, Koji Ohashi, Naoya Otaka, Minako Tatsumi, Toyoaki Murohara, Noriyuki Ouchi, Satoru Oshima   +7 more
wiley   +1 more source

Asthma Phenotypes

Seminars in Respiratory and Critical Care Medicine, 2012
The identification of phenotypes of asthma has a long history, but previous classifications have not identified clinically important differences in pathology, natural history, or treatment response. Progress has accelerated recently, fueled by the development of new techniques to assess airway disease, particularly noninvasive techniques to assess ...
openaire   +3 more sources