Results 51 to 60 of about 86,521 (256)

Quantitative Insights into the Genetic Mechanisms of Crop Heterosis

Advanced Genetics
Heterosis, the universal phenomenon in which F1 hybrids exhibit superior performance compared to their parental lines, is widely exploited in modern agriculture for improving crop yield, yet its genetic mechanisms remain incompletely understood.
Zhiwu Dan, Yunping Chen, Wenchao Huang
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Cultural Negotiations in the Vernacularization of Islamic Inheritance Law in Indonesia: A Socio-Legal and Maqaṣid al-Shariʿah Approach

Jurnal Hukum Islam
Islamic inheritance law is understood as the primary norm for inheritance distribution in Muslim societies, but in practice, it is influenced by local cultural values and family negotiations.
Akhmad Jalaludin, Bunga Desyana Desyana Pratami, Mubarok, Md Yazid Ahmad   +3 more
doaj   +1 more source

Pattern Application VS. Inheritance in SDI [PDF]

, 1999
Recently, SDL patterns have been introduced as a new concept to increase reusability in system design that is based on the formal description technique SDL. An integral part of this approach is the notion of pattern application, comprising the selection, adaptation, and composition of SDL patterns with a (possibly empty) specification context. We argue
Birgit Geppert, Frank Rößler, Reinhard Gotzhein   +2 more
openaire   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Patterns and influence of familial autoimmunity in pediatric systemic lupus erythematosus

Pediatric Rheumatology Online Journal, 2012
Background A high prevalence of autoimmune disease (AD) has been documented in relatives of adult patients with systemic lupus erythematosus (SLE). However, data on familial inheritance patterns in pediatric SLE patients is scarce. Findings The charts of
Walters Heather M, Pan Nancy, Moorthy Lakshmi N, Ward Mary J, Peterson Margaret G, Lehman Thomas J   +5 more
doaj   +1 more source

Inheritance of Patterns of Oxygen Consumption in Mice [PDF]

Australian Journal of Biological Sciences, 1972
Oxygen consrnnptions were measured for males from three random-breeding mouse stocks, R70, Wild, and TNa, and for Fl and F2 offspring of R70xWild crosses and of R 70 X TN a crosses. In each group consumptions were measured on two occasions, once when the animals were adjusted to their rearing temperature (21°C) and once after they had been acclimatized
openaire   +2 more sources

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Spinal muscular atrophy carrier couple with normal child: Demonstrating Mendelian inheritance patterns [PDF]

Journal of Krishna Institute of Medical Sciences University
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene, with a carrier frequency of approximately 1 in 40-60 individuals.
Anwita Shinde, Shradha Salunkhe, Shailaja Mane, Mahathi Reddy, Shruti Gaonkar, Adarsh Sahu   +5 more
doaj