Results 101 to 110 of about 214,100 (302)

Population history, gene flow, and bottlenecks in island populations of a secondary seed disperser, the southern grey shrike (Lanius meridionalis koenigi) [PDF]

, 2014
Studying the population history and demography of organisms with important ecological roles can aid understanding of evolutionary processes at the community level and inform conservation.
Aljanabi, Avise, Beaumont, Beerli, Beerli, Clement, Cornuet, Cornuet, Cox, Crawford, Dawson, Drummond, Emerson, Evanno, Excoffier, Garza, Gonzalez, Goslee, Griffiths, Hall, Higgins, Illera, Illera, IUCN, Jombart, Jost, Juan, Kenta, Klassert, MacArthur, Marshall, Martinez, Martín, Mundy, Nogales, Olsson, Padilla, Parker, Piry, Posada, Pritchard, R Development Core Team, Raymond, Ronquist, Rozas, Spurgin, Suárez, Tamura, Weir, Whittaker, Williamson-Natesan, Worley, Zhang   +52 more
core   +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

Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers: potential interaction with the polymorphic marker D1S104 on chromosome 1q21–q23

Journal of Lipid Research, 2000
Two novel mutations in the lipoprotein lipase (LPL) gene are described in an Austrian family: a splice site mutation in intron 1 (3 bp deletion of nucleotides −2 to −4) which results in skipping of exon 2, and a missense mutation in exon 5 which causes ...
B. Hölzl, H.G. Kraft, H. Wiebusch, A. Sandhofer, J. Patsch, F. Sandhofer, B. Paulweber   +6 more
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

GHRH|HaeIII Gene Polymorphism in Dairy and Beef Cattle at National Livestock Breeding Centers [PDF]

, 2013
This study was aimed to identify polymorphism of growth hormone releasing hormone (GHRH) gene in 89 heads of Holstein-Friesian (HF) dairy cattle from Lembang Artificial Insemination Center/LAIC (17 bulls), Singosari Artificial Insemination Center/SAIC ...
Anggraini, A. (A), Rini, A. O. (A), Sumantri, C. (C)   +2 more
core  

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

Genetic Diversity in Apricot Orchards Across Key Growing Regions in Slovakia and Austria, Along with Cultivar Authentication of Apricot Genotypes Found in the Market

Applied Sciences
This study was aimed at evaluating the genetic diversity and authentication of apricot cultivars from Slovak and Austrian orchards. Eleven highly polymorphic SSR markers were used to analyse 53 apricot genotypes.
Martina Hudcovicová, Lenka Klčová, Marcela Gubišová, Jozef Gubiš, Erika Zetochová, Micha Horacek, Ján Kraic, Michaela Havrlentová, Katarína Ondreičková   +8 more
doaj   +1 more source

A COMPARATIVE ANALYSIS OF GENETIC STRUCTURE OF UKRAINIAN STRAINS OF CARP (CYPRINUS CARPIO L.) AT DIFFERENT CONDITIONS OF REARING

Ribogospodarsʹka Nauka Ukraïni, 2013
We investigated genetic structure of the Ukrainian scaled and framed carps based on six genetic-biochemical systems of blood – TF, ALB, EST, СА, MDH, МЕ.
Т. Nagornyuk
doaj   +1 more source

Characterization of mutations and loss of heterozygosity of p53 and K-\u3ci\u3eras\u3c/i\u3e2 in pancreatic cancer cell lines by immobilized polymerase chain reaction [PDF]

, 2003
Background The identification of known mutations in a cell population is important for clinical applications and basic cancer research. In this work an immobilized form of the polymerase chain reaction, referred to as polony technology, was used to ...
Butz, James, Edwards, Jeremy, Wickstrom, Eric   +2 more
core   +1 more source