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681
Impact of mealtime social experiences on student consumption of meals at school: a qualitative analysis of caregiver perspectives
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682
Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation
Published 2025-01-01“…<b>Background</b>/<b>Objectives</b>: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. …”
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683
Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility
Published 2025-01-01“…Six genes linked to severe recessive osteogenesis imperfecta (OI) and four associated with bone mineral density (BMD) from genome-wide association studies were analyzed using CRISPR/Cas9-based crispant screening in F0 mosaic founder zebrafish. …”
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684
Association of Methylenetetrahydrofolate Reductase C677T Gene Polymorphisms with Mild Cognitive Impairment Susceptibility: A Systematic Review and Meta-Analysis
Published 2021-01-01“…There was no significant association between MTHFR C677T (rs1801133) gene variants and MCI susceptibility under the allelic (OR, 1.318; 95% CI, 0.964–1.801; p=0.084), dominant (OR, 1.296; 95% CI, 0.925–1.817; p=0.132), recessive (OR, 1.397; 95% CI, 0.845–2.312; p=0.193), heterozygous (OR, 1.031; 95% CI, 0.855–1.243; p=0.749), or homozygous (OR, 1.506; 95% CI, 0.850–2.667; p=0.160) models. …”
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685
Al‐Rich AlGaN Transistors with Regrown p‐AlGaN Gate Layers and Ohmic Contacts
Published 2025-01-01“…Utilizing a deep gate recess etch into the channel and an epitaxial regrown p‐AlGaN gate structure, an Al0.85Ga0.15N barrier/Al0.50Ga0.50N channel HEMT with a large positive threshold voltage (VTH = +3.5 V) and negligible gate leakage is demonstrated. …”
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686
Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Published 2014-01-01“…Mutations in the CYP11B1 gene, which encodes steroid 11β-hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously reported male siblings in whom diagnosis of 11β-OHD has been established based on their hormonal profiles displaying high levels of 11-deoxycortisol and hyperandrogenism. …”
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687
Peroxisome Proliferator-Activated Receptor Gamma Polymorphisms and Coronary Heart Disease
Published 2009-01-01“…However, there was a borderline association under the recessive model (OR=1.29 [0.99–1.67], P=.06) that became significant when considering men only (OR=1.73 [1.20–2.48], P=.003). …”
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688
Genetics of Stay-Green Trait and Its Association with Leaf Spot Tolerance and Pod Yield in Groundnut
Published 2019-01-01“…Stay-green trait in groundnut was detected to be under the control of a single recessive gene and hence may be used to select for ELS and LLS resistance.…”
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689
Data on hydrodynamic flow and aspiration mechanisms in a patient-specific pharyngolaryngeal model with variable epiglottis anglesMendeley Data
Published 2025-02-01“…Additionally, the dataset includes photos of the pharyngolaryngeal model setup, photos of the epiglottis models used, and STL files for both the pharyngolaryngeal model and the epiglottis 3D models.The videos document the distinct flow patterns and frequent aspiration sites identified during the experiments, including the interarytenoid notch, the cuneiform tubercular recess, and the vallecula. These data are valuable for researchers aiming to understand the etiology of dysphagia and can be reused to validate computational models, guide future experimental designs, and inform clinical diagnostics and treatment strategies. …”
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690
Exploration of the molecular mechanism behind a novel natural genic male-sterile mutation of 1205A in Brassica napus
Published 2025-02-01“…This study presents a spontaneous recessive genic male-sterile (RGMS) mutant of 1205A, which was employed to establish two two-line hybrid production systems: 1205AB and NT7G132AB. …”
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691
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families
Published 2025-12-01“…Both variants were segregating in an autosomal recessive manner in the respective families.Conclusion The present study has added a novel nonsense mutation to the mutation spectrum of PEX19, which is the second null mutation identified to date. …”
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692
Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States
Published 2025-02-01“…Background: Cystic fibrosis (CF) is an autosomal recessive condition leading to progressive lung disease and often necessitating lung transplantation. …”
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693
OsLAP3/OsSTRL2, encoding a rice strictosidine synthase, is required for anther cuticle formation and pollen exine patterning in rice
Published 2025-01-01“…OsLAP3 is homologous to the maize ZmMS45, the core recessive nuclear sterile gene of maize Seed Production Technology (SPT), and localizes to the endoplasmic reticulum and plays a conserved role in anther development and pollenformation. …”
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694
Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis
Published 2021-03-01“…FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqMan Results The recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35–0.92). …”
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695
An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation
Published 2025-01-01“…ObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. …”
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696
Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss
Published 2019-03-01“…Homozygotization of recessive mutations is one of the putative mechanisms of the influence of such inherited ROHs on RPL development. …”
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697
Normalization of Cystic Fibrosis Immune System Reverses Intestinal Neutrophilic Inflammation and Significantly Improves the Survival of Cystic Fibrosis MiceSummary
Published 2025-01-01“…Background & Aims: Cystic fibrosis (CF) is an autosomal recessive genetic disorder, affecting multiple organ systems. …”
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698
Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil
Published 2025-01-01“…Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. …”
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699
Inheritance of resistance to maize lethal necrosis in tropical maize inbred lines
Published 2025-01-01“…Inbred lines CKL181281 and CKL182037 (GCA effects for MLN4 = -0.45 and -0.24, respectively) contained the most recessive alleles for MLN resistance. The minimum number of groups of genes involved in MLN resistance was estimated to be three. …”
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700
Screening of local barley accessions for sensitivity to photoperiod
Published 2019-01-01“…The Near East and Central Asian centers of barley diversity were notable for the occurrence of local accessions with the recessive allele of the Eam8 gene. Accessions with the eam8eam8 genotype and heterogeneous forms can serve as sources of earliness in regions with short-light days. …”
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