Results 61 to 70 of about 44,110 (224)

A Testis‐Specific Aralkylamine N‐Acetyltransferase Regulates Dimorphic Sperm Function and Male Fertility in Moths

open access: yesAdvanced Science, EarlyView.
We identify a Lepidoptera‐conserved testis‐specific arylalkylamine N‐acetyltransferase (LTNAT) that governs male moth fertility via a novel mechanism. LTNAT loss disrupts eupyrene sperm mitochondrial derivatives and impairs apyrene sperm motility, offering a safe molecular target for innovative pesticides and genetic pest control.
Hao Sun   +5 more
wiley   +1 more source

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]

open access: yes, 2005
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Achermann, JC   +8 more
core   +1 more source

Humanized and Charge‐Optimized CSPG4‐Specific CAR‐T Cells show Enhanced Efficacy against Head and Neck Squamous Cell Carcinoma

open access: yesAdvanced Science, EarlyView.
CSPG4 is identified as a high‐value, stemness‐associated target in HPV‐negative HNSCC. By implementing rational biophysical engineering, a humanized and charge‐optimized CAR is developed to overcome tonic signaling‐induced exhaustion. This strategy induces a profound transcriptomic shift toward a rejuvenated, stem‐like memory state, significantly ...
Xiang Xu   +13 more
wiley   +1 more source

Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion

open access: yesHaematologica, 2008
Background In mammalian cells a regulatory mechanism, known as nonsense-mediated mRNA decay, degrades mRNA harboring premature termination codons. This mechanism is intron-dependent and functions as a quality control mechanism to eliminate abnormal ...
Isabella Garagiola   +5 more
doaj   +1 more source

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia

open access: yesFrontiers in Endocrinology, 2023
IntroductionAsthenoteratozoospermia is one of the most common causes of male infertility. Several genes have been identified as genetic causative factors, but there is a considerable genetic heterogeneity underlying asthenoteratozoospermia. In this study,
Fei Huang   +10 more
doaj   +1 more source

Plant Genetic Engineering: Technological Pathways, Application Scenarios, and Future Directions

open access: yesAdvanced Science, EarlyView.
This review maps the fast‐evolving landscape of plant genetic engineering, linking enabling platforms with trait‐focused applications in architecture optimization, stress resilience, yield improvement, and quality enhancement. It highlights how genome editing, transgenic strategies, and emerging multi‐gene approaches reshape breeding pipelines, while ...
Peilin Wang   +4 more
wiley   +1 more source

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

open access: yesSAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li   +4 more
doaj   +1 more source

Genetic aspects of decreased low-density lipoprotein cholesterol values

open access: yesКардиоваскулярная терапия и профилактика, 2023
Aim. To study genetic causes of decreased low-density lipoprotein cholesterol (LDL-C) in Russian patients.Material and methods. The study included the following Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian ...
A. N. Meshkov   +16 more
doaj   +1 more source

Stochastic theory of protein synthesis and polysome: ribosome profile on a single mRNA transcript

open access: yes, 2011
The process of polymerizing a protein by a ribosome, using a messenger RNA (mRNA) as the corresponding template, is called {\it translation}. Ribosome may be regarded as a molecular motor for which the mRNA template serves also as the track.
Agirrezabala   +52 more
core   +1 more source

Correlation between hepatitis B G1896A precore mutations and HBeAg in chronic HBV patients [PDF]

open access: yes, 2015
Background: Hepatitis B virus (HBV) infection is an important health concern worldwide, with critical outcomes. Hepatitis B e antigen (HBeAg) negative chronic hepatitis B is frequently caused by a mutation (G1896A) in the hepatitis B virus (HBV) precore (
Adli, A.H.   +5 more
core   +1 more source

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