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1141
Generational Expression of Muir-Torre Syndrome in a Canadian Family
Published 2016-01-01“…Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. …”
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1142
A Y chromosome-linked genome editor for efficient population suppression in the malaria vector Anopheles gambiae
Published 2025-01-01“…The YLE comprises a CRISPR-Cas9 construct that is always inherited by males yet generates an autosomal dominant mutation that is transmitted to over 90% of the offspring and results in female-specific sterility. …”
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1143
Correlation of Oxidative Stress with Serum Trace Element Levels and Antioxidant Enzyme Status in Beta Thalassemia Major Patients: A Review of the Literature
Published 2012-01-01“…Beta thalassemia major is an inherited disease resulting from reduction or total lack of beta globin chains. …”
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1144
Transient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease Presenting with Very Long Latency Periods between Episodes: Is Prolonged...
Published 2020-01-01“…Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders affecting the peripheral nervous system. …”
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1145
Semantic Image Synthesis via Class-Adaptive Cross-Attention
Published 2025-01-01“…In response, we designed a novel architecture where cross-attention layers are used in place of SPADE for learning shape-style correlations and so conditioning the image generation process. Our model inherits the versatility of SPADE, at the same time obtaining state-of-the-art generation quality improving FID score by 5.6%, 1.4% and 3.4% on CelebMask-HQ, Ade20k and DeepFashion datasets respectively, as well as improved global and local style transfer. …”
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1146
Development of a cell-penetrating peptide-based nanocomplex for long-term delivery of intact mitochondrial DNA into epithelial cells
Published 2025-03-01“…Here, we present for the first time a strategy to deliver an exogenous, fully intact, and healthy mtDNA template into cells to correct endogenous mtDNA mutations and deletions, with the potential to be developed into an efficient pan-therapy for inherited and/or acquired mtDNA disorders. More specifically, the novel therapeutic nanoparticle complex used in our study was generated by combining a cell-penetrating peptide (CPP) with purified mtDNA, in conjunction with a mitochondrial targeting reagent. …”
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1147
RAREFAN: A webservice to identify REPINs and RAYTs in bacterial genomes
Published 2023-02-01“…REPIN-RAYT systems are mostly vertically inherited and have persisted in individual bacterial lineages for millions of years. …”
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1148
Meta-analysis and systematic review for the genetic basis of cleft lip and palate
Published 2025-01-01“…Cleft lip and palate (CLP) are a usually inherited anomaly described as a gap in the oral cavity's upper lip and/or roof. …”
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1149
Arrhythmias and Sudden Cardiac Death in Beta-Thalassemia Major Patients: Noninvasive Diagnostic Tools and Early Markers
Published 2019-01-01“…Beta-thalassemias are a group of inherited, autosomal recessive diseases, characterized by reduced or absent synthesis of beta-globin chains of the hemoglobin tetramer, resulting in variable phenotypes, ranging from clinically asymptomatic individuals to severe anemia. …”
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1150
Case Report: A rare presentation of rapidly progressive moyamoya disease refractory to unilateral surgical revascularization
Published 2024-08-01“…While the pathophysiology of MMD is unknown, there remain numerous clinical associations including radiation therapy to the brain, inherited genetic syndromes, hematologic disorders, and autoimmune conditions. …”
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1151
The Polymorphism of the ACE Gene Affects Left Ventricular Hypertrophy and Causes Disturbances in Left Ventricular Systolic/Diastolic Function in Patients with Autosomal Dominant Po...
Published 2014-01-01“…Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently occurring autosomal diseases inherited in the dominant manner. Due to this, lesions in the cardiovascular system of ADPKD patients have caught the attention of clinical investigators worldwide. …”
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1152
Networks of pre-diagnostic circulating RNA in testicular germ cell tumour
Published 2025-01-01“…Abstract Testicular germ cell tumour (TGCT) is a malignancy with known inherited risk factors, affecting young men. We have previously identified several hundred differentially abundant circulating RNAs in pre-diagnostic serum from TGCT cases compared to healthy controls. …”
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1153
Hereditary neuropathy with liability to pressure palsies: a case series report
Published 2020-12-01“… Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited peripheral nerve disorder characterized by recurrent, episodic local reversible peripheral nerve compression neuropathy that occurs spontaneously or after minor trauma. …”
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1154
Facile Preparation of Phosphotungstic Acid-Impregnated Yeast Hybrid Microspheres and Their Photocatalytic Performance for Decolorization of Azo Dye
Published 2013-01-01“…Fourier transform infrared spectroscopy (FT-IR) elucidates that the functional groups or chemical bonds inherited from the pristine yeast cell were critical to the assembling of the composites. …”
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1155
Multiobjective Optimization of Yokeless Axial-Field Flux-Switching Permanent Magnet Motor Using the Hybrid Taguchi Genetic Algorithm for Expanded Speed Range
Published 2024-01-01“…The Taguchi method is employed to generate offspring individuals within GA; it inherits parameter characteristics from stronger offspring, saving considerable computation time. …”
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1156
The Role of Architectural Preservation Processes on the Permanence of Heritage Buildings of Value
Published 2022-06-01“…Architectural heritage is all the cultural and civilizational achievements that man inherited from his ancestors, acquiring a qualitative value that has proven its importance and originality in resisting the forces of change, becoming a visual reference. …”
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1157
UKRAINIAN PEASANTRY AS AN OBJECT OF AGRARIAN REFORMS
Published 2014-12-01“…The peasants will lose their land forever and become laborers on the land inherited from previous generations. While carrying out a large-scale reform of the agrarian sector, it mustn’t be allowed for oligarchs to take countryside, land and agriculture into their hands. …”
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1158
Therapies for Mitochondrial Disorders
Published 2022-12-01“…Mitochondria contain their own genome, mitochondrial DNA (mtDNA), which is maternally inherited from the oocyte. Mitochondrial proteins are encoded by either nuclear DNA (nDNA) or mtDNA, and both code for proteins forming the mitochondrial oxidative phosphorylation (OXPHOS) complexes of the respiratory chain. …”
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1159
L’Observatoire photographique national du paysage : transformations d’un modèle et hypothèses renouvelées de paysage
Published 2016-12-01“…In the context of the landscape’s extreme prominence as a discourse, composition, and image, initiatives for the photographic observation of the landscape are developing in France. These approaches inherited from the Observatoire photographique national du paysage (OPNP), take inspiration from a “method” which has been put forward as a “model”. …”
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1160
The Contributions of Party System to Democratic Development in Africa: A Historical Perspective
Published 2023-02-01“…It is important to bear in mind that most of the electoral systems, laws, institutions and constitutions that govern elections in Africa were inherited from colonialism. Electoral politics came as a proposed solution to other socio-economic and political problems. …”
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