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2461
SPERMATOGENESIS INDICES IN INBRED STRAINS DD/HE AND BALB/CLAC AND THEIR F1 RECIPROCAL CROSSES
Published 2014-12-01“…It is known that Y chromosome genes are important for spermatogenesis. Thus, Y chromosome mutations may be responsible for interstrain differences in spermatogenic parameters. …”
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2462
Machine learning models for water safety enhancement
Published 2025-01-01“…These radionuclides can infiltrate the human body through various pathways, potentially leading to cancer and genetic mutations. A study was conducted using random sampling to assess the concentrations of radioactive isotopes and heavy metals in mineral water from Iran, consumable at Arak City. …”
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2463
MsDpo4—a DinB Homolog from Mycobacterium smegmatis—Is an Error-Prone DNA Polymerase That Can Promote G:T and T:G Mismatches
Published 2012-01-01“…Overall, our data show that MsDpo4 has the capacity to facilitate transition mutations and can potentially impart plasticity to the genome.…”
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2464
ATM in immunobiology: From lymphocyte development to cancer immunotherapy
Published 2025-02-01“…Ataxia Telangiectasia Mutated (ATM) is a protein kinase traditionally known for its role in DNA damage response and cell cycle regulation. …”
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2465
Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment
Published 2023-10-01“…The first type is characterised by a reduction in D4Z4 repeats, while the second type is characterised by mutations in genes encoding epigenetic regulators such as SMCHD1. …”
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2466
Therapeutic Potential of α-Synuclein Evolvability for Autosomal Recessive Parkinson’s Disease
Published 2021-01-01“…The remaining are familial PD associated with gene mutations of either autosomal dominant or recessive inheritances. …”
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2467
Principal component analysis (PCA) as a genetic diversity tool to understand the variation of rice mutant culture
Published 2024-12-01“…More precisely, the grouping revealed that the EMS mutants of Anna (R) 4 were potentially mutated not only for the grain type and also for yield related traits such as flag leaf length and breadth, panicle length, plant height. …”
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2468
Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence?
Published 2022-09-01“…ADPKD and MFS are caused by totally different mutations. However, the literature review showed that vascular abnormalities and connective tissue diseases may be more common with ADPKD. …”
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2469
Hybrid Genetic Grey Wolf Algorithm for Large-Scale Global Optimization
Published 2019-01-01“…Finally, the elite individuals in the population are mutated to prevent the algorithm from falling into local optimum. …”
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2470
Statistical - Spatial Analysis of the Core of Siberian High Pressure System Period 1955-2014)
Published 2016-03-01“…Unlike the months of October and January, in March the central pressure had few mutations but no trend was observed. However, during this month the Earth's surface temperature has increased significantly during thementioned period.…”
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2471
Global Fluoroquinolone Resistance Epidemiology and Implictions for Clinical Use
Published 2012-01-01“…However, 10 to 30% of these isolates harbored first-step mutations conferring low level fluoroquinolone resistance. …”
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2472
Circulating Dynamics of SARS-CoV-2 Variants between April 2021 and February 2022 in Turkey
Published 2022-01-01“…In the current study, spike-genome next-generation sequencing was generated from 492 SARS-CoV-2 isolates to evaluate the mutations in Turkey from April 2021 to February 2022. …”
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2473
Into the ears, through the head, out on the lips. How listening errors can trigger new instances of palatalisation
Published 2013-10-01“…L’auteur propose une hypothèse selon laquelle les grandes mutations sociales et idéologiques qui ont caractérisé le monde anglo-saxon après la Seconde Guerre Mondiale ont favorisé le développement de palato-alvéolaires à l’origine non-standard.…”
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2474
Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation?
Published 2014-01-01“…Case Presentation. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m2) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G/5G 675 with slight increase of its value. …”
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2475
Role of SarA in Staphylococcus aureus: A Virulence Target For Therapeutic Strategies
Published 2024-06-01“…SarA plays a crucial role in the pathogenic mechanisms of S. aureus and the development of biofilms, while simultaneously modulating the synthesis of multiple virulence factors and influencing the expression of specific colonization determinants, and mutations in sarA partially limit the extent of S. aureus biofilms formation. …”
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2476
Multiple small bowel GIST as GI manifestation of neurofibromatosis type I: A case report
Published 2025-03-01“…In NF1-associated GIST, KIT and PDGFRA mutations are frequently absent and imatinib is ineffective. …”
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2477
Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research
Published 2012-01-01“…A well-known link between epigenetics and human disease is the X-linked MECP2 gene, mutations in which lead to the neurological disorder, Rett Syndrome. …”
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2478
Sécurité aux frontières : Portée et limites de la stratégie algérienne
Published 2016-06-01“…Despite its contribution to securing the border strip, however, this strategy is still limited for several reasons: the State-centric orientation found whenever dealing with specific issues; the inoperativeness of some cardinal principles in an evolving context characterized by the affirmation of non-state actors; the mutations of the terrorist phenomenon; a highly unstable regional context; a lack of strategic convergence in the region.…”
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2479
Genotype-phenotype insights of pediatric dilated cardiomyopathy
Published 2025-01-01“…Future research should further explore novel pathogenic genes and mutations and strengthen genotype-phenotype correlation analyses to facilitate precise diagnosis and treatment of DCM in children.…”
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2480
Pyruvate Kinase Deficiency Causing Priapism
Published 2023-01-01“…Diagnosis is usually made by demonstration of decreased PK enzymatic activity in a spectrophotometric assay and on the detection of mutations in the PK-LR gene. Management strategies vary from full splenectomies to hematopoietic stem cell transplants with gene therapies with transfusions and administration of PK-activators coming in between. …”
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