keyword
https://read.qxmd.com/read/38622229/crispr-cas9-mediated-editing-of-gmdwf1-brassinosteroid-biosynthetic-gene-induces-dwarfism-in-soybean
#21
JOURNAL ARTICLE
Xumin Xiang, Hongli Yang, Xi Yuan, Xue Dong, Sihua Mai, Qianqian Zhang, Limiao Chen, Dong Cao, Haifeng Chen, Wei Guo, Li Li
The study on the GmDWF1-deficient mutant dwf1 showed that GmDWF1 plays a crucial role in determining soybean plant height and yield by influencing the biosynthesis of brassinosteroids. Soybean has not adopted the Green Revolution, such as reduced height for increased planting density, which have proven beneficial for cereal crops. Our research identified the soybean genes GmDWF1a and GmDWF1b, homologous to Arabidopsis AtDWF1, and found that they are widely expressed, especially in leaves, and linked to the cellular transport system, predominantly within the endoplasmic reticulum and intracellular vesicles...
April 15, 2024: Plant Cell Reports
https://read.qxmd.com/read/38619421/mouse-models-to-explore-the-biological-and-organismic-role-of-dna-polymerase-beta
#22
REVIEW
Robert W Sobol
Gene knock-out (KO) mouse models for DNA polymerase beta (Polβ) revealed that loss of Polβ leads to neonatal lethality, highlighting the critical organismic role for this DNA polymerase. While biochemical analysis and gene KO cell lines have confirmed its biochemical role in base excision repair and in TET-mediated demethylation, more long-lived mouse models continue to be developed to further define its organismic role. The Polb-KO mouse was the first of the Cre-mediated tissue-specific KO mouse models...
April 15, 2024: Environmental and Molecular Mutagenesis
https://read.qxmd.com/read/38614309/characteristic-phenotypes-of-adh5-aldh2-deficiency-during-childhood
#23
JOURNAL ARTICLE
Mio Matsumoto, Momoko Oyake, Tomoyo Itonaga, Miwako Maeda, Soichi Suenobu, Daichi Satob, Yoji Sasahara, Hiroyuki Mishima, Koh-Ichiro Yoshiura, Kenji Ihara
ADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which are often overlooked, particularly in patients with milder symptoms...
April 11, 2024: European Journal of Medical Genetics
https://read.qxmd.com/read/38613984/left-digit-bias-in-self-reported-height
#24
JOURNAL ARTICLE
Hyunkuk Cho
Left-digit bias is a cognitive bias wherein individuals assess the magnitude of numbers by emphasizing the leftmost digit. For instance, people often perceive the difference between $9.99 and $10.00 larger than that between $10.00 and $10.01, given the distinct left digits in the former two numbers. This study associates self-reported height with this cognitive bias. Taller stature is frequently associated with desirable attributes such as higher earnings and leadership positions; individuals may aspire to be taller and, consequently, report a height greater than their actual measurement...
April 10, 2024: Economics and Human Biology
https://read.qxmd.com/read/38613222/genotype-and-phenotype-in-patients-with-acan-gene-variants-three-cases-and-literature-review
#25
JOURNAL ARTICLE
Wei Tang, Ke-Mi Wu, Qiong Zhou, Yan-Fei Tang, Jun-Fen Fu, Guan-Ping Dong, Chao-Chun Zou
OBJECTIVE: To characterize the phenotype spectrum, diagnosis, and response to growth-promoting therapy in patients with ACAN variants causing familial short stature. METHODS: Three families with ACAN variants causing short stature were reported. Similar cases in the literature were summarized, and the genotype and phenotype were analyzed. RESULTS: Three novel heterozygous variants, c.757+1G>A, (splicing), c.6229delG, p.(Asp2078Tfs*1), and c...
April 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38613057/plasma-induced-changes-in-the-metabolome-following-vistula-tart-cherry-consumption
#26
JOURNAL ARTICLE
Emma Squires, Ian H Walshe, William Cheung, Samantha L Bowerbank, John R Dean, Jacob Wood, Malachy P McHugh, Stephan Plattner, Glyn Howatson
Evidence suggests that tart cherry (TC) supplementation has beneficial effects on health indices and recovery following strenuous exercise. However, little is known about the mechanisms and how TC might modulate the human metabolome. The aim of this study was to evaluate the influence of an acute high- and low-dose of Vistula TC supplementation on the metabolomic profile in humans. In a randomised, double-blind, placebo controlled, cross-over design, 12 healthy participants (nine male and three female; mean ± SD age, stature, and mass were 29 ± 7 years old, 1...
April 1, 2024: Nutrients
https://read.qxmd.com/read/38611940/metabolic-characteristics-and-discriminative-diagnosis-of-growth-hormone-deficiency-and-idiopathic-short-stature-in-preadolescents-and-adolescents
#27
JOURNAL ARTICLE
Yajie Chang, Jing Chen, Hongwei Zhu, Rong Huang, Jinxia Wu, Yanyan Lin, Quanquan Li, Guiping Shen, Jianghua Feng
Growth hormone deficiency (GHD) and idiopathic short stature (ISS) are the most common types of short stature (SS), but little is known about their pathogenesis, and even less is known about the study of adolescent SS. In this study, nuclear magnetic resonance (NMR)-based metabolomic analysis combined with least absolute shrinkage and selection operator (LASSO) were performed to identify the biomarkers of different types of SS (including 94 preadolescent GHD (PAG), 61 preadolescent ISS (PAI), 43 adolescent GHD (ADG), and 19 adolescent ISS (ADI)), and the receiver operating characteristic curve (ROC) was further used to evaluate the predictive power of potential biomarkers...
April 7, 2024: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://read.qxmd.com/read/38610900/spinal-postures-and-mobility-in-children-with-achondroplasia-vs-age-and-sex-matched-healthy-individuals-a-preliminary-report
#28
JOURNAL ARTICLE
Munkh-Erdene Bayartai, Hannu Luomajoki, Andrea Aliverti, Antonella LoMauro, Gabriella Tringali, Alessandro Sartorio
Background: Achondroplasia is a rare genetic disease, yet the most common form of dwarfism, characterized by limb shortening and disproportionate short stature along with musculoskeletal changes, such as postural deviations. Although postural changes in the spine in children with achondroplasia have been well investigated, little is known about the association of achondroplasia with spinal movements/mobility. Methods: This preliminary study aims to explore the association of achondroplasia with spinal mobility in children with achondroplasia compared to age- and sex-matched healthy individuals...
April 7, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38608953/a-large-population-study-to-assess-the-magnitude-of-prenatal-programming-in-dairy-cattle
#29
JOURNAL ARTICLE
C Fouéré, M P Sanchez, M Boussaha, S Fritz, A Vinet, H Kiefer, D Boichard, C Hozé
The performance of an adult dairy cow may be influenced by events that occur before her birth. The present study investigated potential effects of 2 prenatal groups of factors, Assisted Reproductive Techniques (ART) and maternal characteristics (e.g., dam parity), on offspring performance during their first lactation, in populations of 2 dairy cow breeds: French Holstein and Montbéliarde. The different ART studied included the type of semen (conventional or X-sorted) used for Artificial Insemination (AI) and the technology of conception used (AI, embryo transfer, or in vitro fertilization)...
April 10, 2024: Journal of Dairy Science
https://read.qxmd.com/read/38607423/growth-hormone-in-pediatric-chronic-kidney-disease-more-than-just-height
#30
REVIEW
Katie Marie Sullivan, Alison J Kriegel
Recombinant human growth hormone therapy, which was introduced in the 1980s, is now routine for children with advanced chronic kidney disease (CKD) who are exhibiting growth impairment. Growth hormone usage remains variable across different centers, with some showing low uptake. Much of the focus on growth hormone supplementation has been on increasing height because of social and psychological effects of short stature. There are, however, numerous other changes that occur in CKD that have not received as much attention but are biologically important for pediatric growth and development...
April 12, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38606084/editorial-short-stature-beyond-growth-hormone
#31
EDITORIAL
Lukas Plachy, Annalisa Deodati, Gianluca Tornese
No abstract text is available yet for this article.
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38604781/severe-manifestation-of-rauch-azzarello-syndrome-associated-with-biallelic-deletion-of-ctnnd2
#32
JOURNAL ARTICLE
Melissa Pauly, Mandy Krumbiegel, Sandra Trumpp, Sonja Braig, Thomas Rupprecht, Cornelia Kraus, Steffen Uebe, André Reis, Georgia Vasileiou
CTNND2 encodes δ-catenin, a component of an adherens junction complex, and plays an important role in neuronal structure and function. To date, only heterozygous loss-of-function CTNND2 variants have been associated with mild neurodevelopmental delay and behavioral anomalies, a condition, which we named Rauch-Azzarello syndrome. Here, we report three siblings of a consanguineous family of Syrian descent with a homozygous deletion encompassing the last 19 exons of CTNND2 predicted to disrupt the transcript...
April 11, 2024: Clinical Genetics
https://read.qxmd.com/read/38601067/a-challenging-case-of-diabetes-in-a-patient-with-xxyy-syndrome
#33
Luisa M Bernacet Rivera, Hassaan B Aftab, Faryal S Mirza
48 XXYY syndrome is a rare polyploidy often compared with Klinefelter syndrome because of shared features such as tall stature, neurocognitive diseases, hypogonadism, and cardiac malformations. This population is believed to be predisposed to type 2 diabetes because of the presence of hypogonadism and central adiposity. We present a patient with XXYY syndrome who had an atypical and difficult-to-manage diabetes presentation. The patient was nonadherent to medication regimen with poorly controlled diabetes and hemoglobin A1c ranging from 12% to 14% (16...
April 2024: JCEM Case Rep
https://read.qxmd.com/read/38600040/root-and-shoot-phenology-architecture-and-organ-properties-an-integrated-trait-network-among-44-herbaceous-wetland-species
#34
JOURNAL ARTICLE
Ziqi Ye, Yanmei Mu, Shianne Van Duzen, Peter Ryser
Integrating traits across above- and belowground organs offers comprehensive insights into plant ecology, but their various functions also increase model complexity. This study aimed to illuminate the interspecific pattern of whole-plant trait correlations through a network lens, including a detailed analysis of the root system. Using a network algorithm that allows individual traits to belong to multiple modules, we characterize interrelations among 19 traits, spanning both shoot and root phenology, architecture, morphology, and tissue properties of 44 species, mostly herbaceous monocots from Northern Ontario wetlands, grown in a common garden...
April 10, 2024: New Phytologist
https://read.qxmd.com/read/38598419/are-there-sensitive-periods-for-skill-development-in-male-adolescent-basketball-players
#35
JOURNAL ARTICLE
Eduardo Guimarães, Adam D G Baxter-Jones, A Mark Williams, David I Anderson, Manuel A Janeira, Fernando Garbeloto, Sara Pereira, José Maia
PURPOSE: Although spurts in physical capacities during adolescence are well-known, little is known about the existence of such spurts in sport-specific skill development, especially during the period of rapid growth in stature. Our aims were to examine the timing, intensity, and sequence of basketball-specific skill spurts aligned with biological [years from peak height velocity (PHV)] rather than chronological age. We then defined putative sensitive periods (windows of optimal development) for each skill aligned to the adolescent growth spurt...
April 10, 2024: Medicine and Science in Sports and Exercise
https://read.qxmd.com/read/38597155/a-clinical-trial-of-high-dose-growth-hormone-in-a-patient-with-a-dominant-negative-growth-hormone-receptor-mutation
#36
JOURNAL ARTICLE
Nadia Merchant, Lisa Houchin, Kimberly Boucher, Andrew Dauber
CONTEXT: Rare patients with short stature and growth hormone (GH) resistance have dominant-negative variants in the GH receptor. We describe a patient with GH resistance due to elevated levels of GH binding protein and demonstrate the potential for a precision medicine intervention. OBJECTIVE: To determine whether high dose GH can overcome GH resistance in this specific patient resulting in normal IGF-1 levels and improved growth rates. DESIGN: Single patient trial of ascending doses of GH followed by dose stable phase; total 12 months of treatment...
April 10, 2024: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/38595277/running-event-age-and-competitive-level-as-predictors-of-dual-energy-x-ray-absorptiometry-derived-body-composition-and-bone-health-markers-in-female-runners
#37
JOURNAL ARTICLE
Laura Jane Wilson, Christopher Curtis
Wilson, LJ and Curtis, C. Running event, age, and competitive level as predictors of dual-energy x-ray absorptiometry-derived body composition and bone health markers in female runners. J Strength Cond Res XX(X): 000-000, 2024-The aim of this study was to assess the impact of running discipline, competitive level (COMP), and age on body composition measures in female athletes. A total of n = 51 female runners (age: 30.9 ± 5.7 years, stature: 166.7 ± 5.7 cm, and body mass (BM): 57.1 ± 8.2 kg) completed a full-body dual-energy x-ray absorptiometry (DXA) scan in a cross-sectional design...
April 9, 2024: Journal of Strength and Conditioning Research
https://read.qxmd.com/read/38594899/do-the-feet-of-male-and-female-netball-players-differ-in-shape-implications-for-shoe-design
#38
JOURNAL ARTICLE
Maddison M Kirk, Jessica A Dobson, Joshua P M Mattock, Celeste E Coltman, Julie R Steele
A large proportion of netball players suffer foot-related problems and pain and are dissatisfied with current netball-specific footwear. To improve the fit and functionality of netball-specific shoes, we must understand the shape of these players' feet and determine whether any sex differences exist. Five hundred and two representative-level netball players ( n  = 251 male; n  = 251 female) had their feet three-dimensionally scanned. We then used a validated MATLAB code to automatically extract 10 measurements to characterise each participant's foot shape...
April 9, 2024: Journal of Sports Sciences
https://read.qxmd.com/read/38594584/investigation-and-comparison-of-maternal-pre-pregnancy-body-mass-index-coupled-with-gestational-weight-gain-on-maternal-fetal-complications-based-on-us-and-chinese-guidelines-a-retrospective-study
#39
JOURNAL ARTICLE
Wan-Ju Kung, Hsin-Yi Kuo, Ching-Feng Chang, Yeong-Hwa Zen, Ching-Chiang Lin
Compared to Western populations, Chinese and Asians possess distinct genetics, lifestyles, and dietary habits. They tend to have shorter stature, lower Body Mass Index (BMI), and higher body fat percentages than Western populations. The aim of this study was to compare disparities in maternal-fetal outcomes by combining pre-pregnancy BMI and gestational weight gain (GWG) based on distinct US and Chinese guidelines. A total of 2,271 pregnant women who received perinatal care at Fooyin University Hospital from 2016 to 2021 were included...
April 9, 2024: Reproductive Sciences
https://read.qxmd.com/read/38592826/bringing-barley-back-analysis-of-heritage-varieties-for-use-as-germplasm-sources-to-improve-resistance-against-the-most-devastating-contemporary-disease-in-canada-fusarium-head-blight-fusarium-graminearum
#40
JOURNAL ARTICLE
James R Tucker, Ana Badea, Barbara A Blackwell, Dan MacEachern, Aaron Mills
Fusarium head blight (FHB), caused by Fusarium graminearum , is currently the most devastating disease for barley ( Hordeum vulgare ) in Canada. Associated mycotoxins can compromise grain quality, where deoxynivalenol (DON) is considered particularly damaging due to its frequency of detection. Breeding barley with a lower DON content is difficult, due to the poor adaptation and malt quality of resistance sources. A set of European-derived heritage varieties were screened in an FHB nursery in Charlottetown, PE, with selections tested at Brandon, MB, between 2018-2022...
March 11, 2024: Plants (Basel, Switzerland)
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