Results 91 to 100 of about 38,884 (324)

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

open access: yesSultan Qaboos University Medical Journal, 2013
Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no ...
Karen L. Sheath   +5 more
doaj  

Runs of Homozygosity as Footprints of Selection in the Norik of Muran Horse Genome

open access: yesActa Universitatis Agriculturae et Silviculturae Mendelianae Brunensis, 2019
The aim of this study was to analyse the genome-wide distribution of runs of homozygosity (ROH) segments in the genome of Norik of Muran horse and to identify the regions under strong selection pressure. Overall, 25 animals genotyped by the GGP Equine70k
Nina Moravčíková   +5 more
doaj   +1 more source

Combining Three Peripheral Blood Biomarkers to Stratify Rheumatoid Arthritis‐Associated Interstitial Lung Disease Risk

open access: yesArthritis Care &Research, Accepted Article.
Objective The purpose was to evaluate a biomarker score consisting of MUC5B rs35705950 promoter variant, plasma matrix metalloproteinase (MMP)‐7, and serum anti‐malondialdehyde‐acetaldehyde (anti‐MAA) antibody for RA‐associated interstitial lung disease risk stratification. Methods Using a multicenter cohort of US veterans with RA, we performed a cross‐
Kelsey Coziahr   +16 more
wiley   +1 more source

Chromosome study in Schistocerca (Orthoptera-Acrididae-Cyrtacanthacridinae): karyotypes and distribution patterns of constitutive heterochromatin and nucleolus organizer regions (NORs). [PDF]

open access: yes, 2018
Chromosome analyses were performed in two grasshopper species of the genus Schistocerca, S. pallens and S. flavofasciata. Both species shared the same diploid number (2n = 23, X in males; 2n = 24, XX in females); and a con- served karyotype composed ...
MELO, N. F. de, SOUZA, M. J. de
core  

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

open access: yesAdvanced Healthcare Materials, EarlyView.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico   +8 more
wiley   +1 more source

Cytogenetic description of the Amazonian brown brocket Mazama nemorivaga (Artiodactyla, Cervidae)

open access: yesComparative Cytogenetics, 2013
The Amazonian brown brocket Mazama nemorivaga (Cuvier, 1817) is a small to medium-sized deer from the Amazon rainforest and ecotones. The first karyotype described was 2n=67 to 69 + 2-7 B and FN= 69-72, in which all chromosomes were acrocentric and the X
Bruno Ferreto Fiorillo   +3 more
doaj   +1 more source

A Human Kidney Tubuloid Model of Repeated Cisplatin‐Induced Cellular Senescence and Fibrosis for Drug Screening

open access: yesAdvanced Healthcare Materials, EarlyView.
Replicating aging and senescence‐related pathophysiological responses in kidney organoids remains a significant challenge. Human adult renal tubular organoid, tubuloids, are successfully developed recapitulating cellular senescence that is the central pathophysiological mechanism of chronic kidney disease (CKD).
Yuki Nakao   +20 more
wiley   +1 more source

ZNF280BY and ZNF280AY: autosome derived Y-chromosome gene families in Bovidae

open access: yesBMC Genomics, 2011
Background Recent progress in exploring the Y-chromosome gene content in humans, mice and cats have suggested that "autosome-to-Y" transposition of the male fertility genes is a recurrent theme during the mammalian Y-chromosome evolution.
Yasue Hiroshi   +5 more
doaj   +1 more source

Autosomal Recessive Osteopetrosis

open access: yesAnnals of Saudi Medicine, 1994
Osteopetrosis is a genetic disease that is relatively common in Saudi Arabia because of the high rate of consanguineous marriages. It is thought to be due to a lysosomal defect of the osteoclast. It is characterized by marked increase in bone density, frequent fractures and cranial nerve palsies. It is transmitted as an autosomal recessive or autosomal
openaire   +2 more sources

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

open access: yesAdvanced Science, EarlyView.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu   +15 more
wiley   +1 more source

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