Search Results - "Standards and Guidelines for Genetic Variant Interpretation"

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases

Authors: Harvy Velasco Aida M. Bertoli‐Avella Carolina Jaramillo Jaramillo et al.

Source: Eur J Hum Genet

Subject Terms: Adult, Male, 0301 basic medicine, Adolescent, Immunology, Colombia, Gene, Adolescent [MeSH], Female [MeSH], Adult [MeSH], 692/308/2056, Humans [MeSH], Whole Genome Sequencing/standards [MeSH], Middle Aged [MeSH], Colombia [MeSH], Article, Genetic Testing/standards [MeSH], Infant [MeSH], Male [MeSH], 692/308/575, Rare Diseases/genetics [MeSH], Genetic Testing/methods [MeSH], Rare Diseases/diagnosis [MeSH], Child [MeSH], article, Child, Preschool [MeSH], Computational biology, 03 medical and health sciences, Rare Diseases, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Pathology, Humans, Genetic Testing, DNA sequencing, Child, Biology, Immunology and Microbiology, 0303 health sciences, Genome, Whole Genome Sequencing, Genetic Basis of Primary Immunodeficiency Disorders, FOS: Clinical medicine, Cohort, 1. No poverty, Infant, Life Sciences, Middle Aged, Standards and Guidelines for Genetic Variant Interpretation, Genomic Rearrangements and Copy Number Variations, 3. Good health, Child, Preschool, FOS: Biological sciences, Whole genome sequencing, Medicine, Female

Access URL: https://pubmed.ncbi.nlm.nih.gov/38909121
https://repository.publisso.de/resource/frl:6519929

Precision medicine approaches in epilepsy: A systematic review of genetic markers and personalized treatment strategies

Authors: Aman Agarwal Ravneet Kaur Faiza Ashfaque et al.

Source: Precision Medical Sciences, Vol 13, Iss 2, Pp 72-83 (2024)

Subject Terms: FOS: Computer and information sciences, Bioinformatics, precision medicine, Computational biology, 03 medical and health sciences, 0302 clinical medicine, Epilepsy and Seizures, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Pathology, Biology, RC254-282, Psychiatry, Epilepsy, Precision medicine, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, 16. Peace & justice, Personalized medicine, Computer science, in epilepsy, 3. Good health, Psychiatry and Mental health, FOS: Biological sciences, genetic markers, Medicine, Molecular Basis of Rett Syndrome and Related Disorders

Access URL: https://doaj.org/article/d7d2be207f944c9b9daf0ae86b79ba42

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Authors: Shantanu Jain Marena Trinidad Thanh Nguyen et al.

Source: bioRxiv

Subject Terms: Clinical significance, Mutation, Missense, Gene, Article, Machine Learning, Computational biology, Biochemistry, Genetics and Molecular Biology, Genetics, Humans, Missense mutation, Biology, Internal medicine, Cerebroside-Sulfatase, Interpretation (philosophy), Genome, 4. Education, Genetic Variation, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Structural Variation, 16. Peace & justice, Computer science, Genomic Rearrangements and Copy Number Variations, Programming language, 3. Good health, Genomic Studies and Association Analyses, Phenotype, FOS: Biological sciences, CAGI, Arylsulfatase A, Protein variant effect predicition, enzyme activity, Medicine

Access URL: https://pubmed.ncbi.nlm.nih.gov/40055237
https://pubmed.ncbi.nlm.nih.gov/38798479
https://hdl.handle.net/11585/1016062
https://doi.org/10.1007/s00439-025-02731-3

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Authors: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Contributors: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Source: Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1 <http://dx.doi.org/10.1038/s41431-024-01610-1>

Subject Terms: Male, 0301 basic medicine, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Intellectual disability, Gene, Histones, Genetic heterogeneity, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genetics(clinical), Missense mutation, Child, 0303 health sciences, Life Sciences, Neurodegenerative Diseases, 16. Peace & justice, Genomic Rearrangements and Copy Number Variations, 3. Good health, Fenotip, Chemistry, Phenotype, Child, Preschool, Molecular Basis of Rett Syndrome and Related Disorders, Female, Epigenetics, Trastorns del desenvolupament - Aspectes genètics, Adult, Adolescent, 610 Medicine & health, Hypotonia, Adolescent [MeSH], Female [MeSH], Adult [MeSH], Histones/genetics [MeSH], Humans [MeSH], Neurodevelopmental Disorders/pathology [MeSH], Intellectual Disability/genetics [MeSH], 631/208/1516, Neurodegenerative Diseases/pathology [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Neurodegenerative Diseases/genetics [MeSH], Intellectual Disability/pathology [MeSH], 631/208/366, Article, Male [MeSH], Phenotype [MeSH], Child [MeSH], article, Child, Preschool [MeSH], 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Journal Article, Genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Humans, Discapacitat intel·lectual, Biology, Brain Development, Standards and Guidelines for Genetic Variant Interpretation, Neurodevelopmental Disorders, FOS: Biological sciences, Human medicine, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38678163
https://hdl.handle.net/11351/11842
https://dspace.library.uu.nl/handle/1874/454819
https://hdl.handle.net/1887/4210177
https://hdl.handle.net/10067/2058020151162165141
https://repository.uantwerpen.be/docstore/d:irua:23508
https://boris.unibe.ch/196319/
https://repository.publisso.de/resource/frl:6492310
https://discovery-pp.ucl.ac.uk/id/eprint/10191954/

New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder

Authors: Ghada M.H. Abdel‐Salam Mohamed S. Abdel‐Hamid

Source: J Hum Genet

Subject Terms: Male, 0301 basic medicine, Exome sequencing, FOS: Computer and information sciences, Ubiquitin-Proteasome Proteolytic Pathway, Bioinformatics, Autism, Hypotonia, Pediatrics, Gene, Article, 03 medical and health sciences, Fetus, Neurodevelopmental disorder, Pregnancy, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Phenotype Analysis, Exome Sequencing, Genetics, Humans, Autism spectrum disorder, Molecular Biology, Biology, Arthrogryposis, Psychiatry, 2. Zero hunger, 0303 health sciences, Homozygote, Infant, Newborn, Infant, Brain, Life Sciences, Failure to thrive, Standards and Guidelines for Genetic Variant Interpretation, Pedigree, 3. Good health, Phenotype, Neurodevelopmental Disorders, RNA Methylation and Modification in Gene Expression, FOS: Biological sciences, Mutation, Medicine, Muscle Hypotonia, Female, Egypt, Pulmonary hypoplasia, Anatomy

Access URL: https://pubmed.ncbi.nlm.nih.gov/38459224

A Mutation in the CACNA1F Gene Found by Whole Exome Sequencing (WES) and In Silico Analysis in an Iranian Family with Consanguineous Relationships

Authors: Vahid Omarmeli Alireza Sharafshah Kai-Uwe Levandrowski et al.

Source: Current Aging Science. 18:80-85

Subject Terms: Male, Exome sequencing, FOS: Computer and information sciences, Heredity, Calcium Channels, L-Type, Bioinformatics, DNA Mutational Analysis, Exon, Iran, Gene, Young Adult, Consanguinity, Calcium Channels, T-Type, Human genetics, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Computer Simulation, Missense mutation, Molecular Biology, Biology, In silico, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Molecular Mechanisms of Retinal Degeneration and Regeneration, Pedigree, Genomic Rearrangements and Copy Number Variations, 3. Good health, Phenotype, FOS: Biological sciences, Mutation, Female, Genetic counseling

Access URL: https://pubmed.ncbi.nlm.nih.gov/38778612

MMPatho: Leveraging Multilevel Consensus and Evolutionary Information for Enhanced Missense Mutation Pathogenic Prediction

Authors: Fang Ge Muhammad Arif Zihao Yan et al.

Source: J Chem Inf Model

Subject Terms: Consensus, Pathogenicity Prediction, Mutation, Missense, Computational Biology, Reproducibility of Results, Proteins, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Computer science, Gene, Computational biology, Variant Databases, FOS: Biological sciences, Biochemistry, Genetics and Molecular Biology, Phenotype Analysis, Exome Sequencing, Mutation, Genetics, Humans, Missense mutation, RNA Sequencing Data Analysis, Ribosome Structure and Translation Mechanisms, Molecular Biology, Biology, metagenomics assembly

Access URL: https://pubmed.ncbi.nlm.nih.gov/37947586

NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

Authors: Bandres-Ciga, Sara Faghri, Faraz Hernandez, Dena G et al.

Contributors: Bandres-Ciga, Sara Faghri, Faraz Hernandez, Dena G et al.

Source: medRxiv
Movement disorders 39(11), 2039-2048 (2024). doi:10.1002/mds.29902

Subject Terms: Genotyping, Genotyping Techniques, Genotype, Global Parkinson's Genetics Program, Neuroimaging, Evolutionary biology, Gene Set Enrichment Analysis, methods [Genome-Wide Association Study], Polymorphism, Single Nucleotide, Gene, Article, diversity, Genomic Data Integration, Computational biology, Biochemistry, Genetics and Molecular Biology, Neurodegeneration with Brain Iron Accumulation, Genetics, Humans, Genetic Predisposition to Disease, ddc:610, genetics [Genetic Predisposition to Disease], Molecular Biology, Biology, Genome, Centre for Alzheimer's and Related Dementias, Genetic Variation, Life Sciences, genetic screening, Standards and Guidelines for Genetic Variant Interpretation, genetics [Nervous System Diseases], genetics [Genetic Variation], NeuroBooster array, 3. Good health, Analysis of Gene Interaction Networks, genotyping, Neurology, FOS: Biological sciences, methods [Genotyping Techniques], genetics [Polymorphism, Single Nucleotide], Nervous System Diseases, neurological diseases, Genome-Wide Association Study, Neuroscience

Access URL: https://pubmed.ncbi.nlm.nih.gov/39283294
https://pubmed.ncbi.nlm.nih.gov/37986980

Primary progressive aphasia: six questions in search of an answer

Authors: Christopher R. S. Belder Charles R. Marshall Jessica Jiang et al.

Source: J Neurol

Subject Terms: Cognitive Neuroscience, Neurological Update, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Aphasia, Pathology, Humans, Psychology, Logopenic aphasia, Disease, Language, Neural Mechanisms of Language Processing, Cognitive Impairment, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Semantic dementia, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Aphasiology, 3. Good health, FOS: Psychology, Alzheimer's disease, Frontotemporal dementia, Logopenic aphasia, Primary progressive aphasia, Semantic dementia, Aphasia, Primary Progressive, Phenotype, Neurology, Neuroradiology, FOS: Biological sciences, Medicine, Dementia, Primary progressive aphasia, Alzheimer's disease, Frontotemporal dementia, Neuroscience

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/37906327
https://hdl.handle.net/20.500.11768/171479
https://link.springer.com/article/10.1007/s00415-023-12030-4
https://doi.org/10.1007/s00415-023-12030-4
https://discovery-pp.ucl.ac.uk/id/eprint/10180470/

Developing Clinical Phenotype Data Collection Standards for Research in Africa

Authors: Lyndon Zass Katherine Johnston Alia Benkahla et al.

Source: Glob Health Epidemiol Genom
Global Health, Epidemiology and Genomics, Vol 2023 (2023)

Subject Terms: Alternative medicine, Challenges and Innovations in Bioinformatics Education, Data science, Biochemistry, Genetics and Molecular Biology, Phenotype Analysis, Health Sciences, Genetics, Pathology, FOS: Mathematics, Humans, Prospective Studies, Molecular Biology, Retrospective Studies, Data Collection, Statistics, Public Health, Environmental and Occupational Health, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Computer science, 3. Good health, Ethical Considerations in Medical Research Participation, Phenotype, FOS: Biological sciences, Africa, Protocol (science), Data collection, Medicine, Public aspects of medicine, RA1-1270, Mathematics, Research Article

File Description: text/xhtml

Access URL: https://pubmed.ncbi.nlm.nih.gov/37766808
https://doaj.org/article/871f65ab4c9c4f8aac3762bb1f326fd6

Factors associated with awareness of literate mothers about newborn screening: a cross-sectional study from a low-middle-income country

Authors: Hafsa Majid Lena Jafri Arsala Jameel Farooqui et al.

Source: Journal of the Pakistan Medical Association. 73:1805-1810

Subject Terms: Adult, Health Knowledge, Attitudes, Practice, Family medicine, Developing country, Economics, Low and middle income countries, Mothers, Pediatrics, Neonatal Screening, Sociology, Pregnancy, Biochemistry, Genetics and Molecular Biology, 11. Sustainability, Genetics, Pathology, Humans, Child, Cross-sectional study, Economic growth, Demography, Pathogenicity Prediction, 1. No poverty, Infant, Newborn, Life Sciences, Middle Aged, Standards and Guidelines for Genetic Variant Interpretation, 3. Good health, FOS: Sociology, Parity, Cross-Sectional Studies, Environmental health, Genetic and Environmental Influences on Cleft Lip and Palate, FOS: Biological sciences, Medicine, Female

Access URL: https://pubmed.ncbi.nlm.nih.gov/37817688

On the Polymorphism Information Content (PIC) – A Practical Application for the DNA Sequencing Data

Authors: Pranto Roy Sajjad Bin Sogir Tapati Basak

Source: European Journal of Medical and Health Research. 1:21-29

Subject Terms: 0301 basic medicine, Allele, Single-nucleotide polymorphism, 0303 health sciences, Genome-wide association study, Genome, Genotype, 4. Education, Life Sciences, Inheritance (genetic algorithm), Standards and Guidelines for Genetic Variant Interpretation, Gene, Genomic Studies and Association Analyses, Genome-Wide Association, Computational biology, 03 medical and health sciences, FOS: Biological sciences, Biochemistry, Genetics and Molecular Biology, Microarray Data Analysis and Gene Expression Profiling, Genetics, Genetic association, Molecular Biology, Biology

Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk

Authors: Patrick Bryant Sophie Walton Bernstedt Jessada Thutkawkorapin et al.

Source: European Journal of Cancer Prevention. 32:113-118

Subject Terms: Exome sequencing, 0301 basic medicine, DNA mismatch repair, Penetrance, DNA Mismatch Repair, Gene, Pathology and Forensic Medicine, Molecular Characterization of Colorectal Cancer, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Health Sciences, Exome Sequencing, Germline mutation, Genetics, Humans, Exome, Missense mutation, Molecular Biology, Biology, Internal medicine, Mismatch Repair Endonuclease PMS2, Cancer, Sweden, 0303 health sciences, MLH1, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal cancer, Cancer Risk, 3. Good health, PMS2, Lynch syndrome, Phenotype, Oncology, Case-Control Studies, FOS: Biological sciences, Regulation of RNA Processing and Function, Mutation, Medicine, Colorectal Neoplasms, MutL Protein Homolog 1

Access URL: https://pubmed.ncbi.nlm.nih.gov/36134613

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy

Authors: Mariem Ben Saïd Olfa Jallouli A. Aissa et al.

Source: Epilepsia Open
Epilepsia Open, Vol 9, Iss 5, Pp 1697-1709 (2024)

Subject Terms: Male, Adult, Sanger sequencing, Tunisia, Adolescent, diagnosis, Population, Encephalopathy, Gene, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Humans, DNA sequencing, developmental and epileptic encephalopathy, RC346-429, Child, panel, Molecular Biology, Biology, Internal medicine, Epilepsy, High-Throughput Nucleotide Sequencing, Infant, Life Sciences, sequencing, Massive parallel sequencing, Standards and Guidelines for Genetic Variant Interpretation, 3. Good health, Nucleotide Metabolism and Enzyme Regulation, Environmental health, variant, Child, Preschool, FOS: Biological sciences, Mutation, Molecular Basis of Rett Syndrome and Related Disorders, Medicine, Original Article, Female, Neurology. Diseases of the nervous system, Spasms, Infantile, Neuroscience

Access URL: https://pubmed.ncbi.nlm.nih.gov/37867425
https://doaj.org/article/4b8f1de5496245df8ee7e1d0e2710950

Participant views on practical considerations for feedback of individual genetic research results: a case study from Botswana

Authors: Dimpho Ralefala Mary Kasule Olivia P. Matshabane et al.

Source: Glob Bioeth
Global Bioethics, Vol 34, Iss 1, Pp 1-14 (2023)

Subject Terms: Medical education, Medical philosophy. Medical ethics, Research Participation, Developmental psychology, Health Professions, FOS: Mechanical engineering, Applied psychology, Social psychology, Focus group, Context (archaeology), Engineering, Sociology, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Psychology, genetics, adolescents, Work (physics), Research Articles, Advancing Evidence-Based Practice Implementation in Healthcare, H1-99, Botswana, R723-726, Geography, Public Health, Environmental and Occupational Health, parents, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Mechanical engineering, Ethical Considerations in Medical Research Participation, FOS: Sociology, Social sciences (General), FOS: Psychology, Archaeology, FOS: Biological sciences, Anthropology, General Health Professions, feedback of results, Medicine, Practical considerations

Access URL: https://pubmed.ncbi.nlm.nih.gov/37063478
https://doaj.org/article/063ea713ff6b4977a72efd0a620761e5

The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings

Authors: Kathryn A. McGurk Xiaolei Zhang Pantazis Theotokis et al.

Contributors: Kathryn A. McGurk Xiaolei Zhang Pantazis Theotokis et al.

Source: Am J Hum Genet

Subject Terms: Male, Adult, Cardiomyopathy, Dilated, Genetic testing, prevalence, Penetrance, Gene, Article, Gene Frequency, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Humans, Cardiac Imaging, penetrance, Biology, Internal medicine, Allele, Dilated Cardiomyopathy, Diagnosis and Management of Hypertrophic Cardiomyopathy, Life Sciences, Cardiomyopathy, Hypertrophic, Standards and Guidelines for Genetic Variant Interpretation, 3. Good health, Hypertrophic cardiomyopathy, Genomic Studies and Association Analyses, Phenotype, FOS: Biological sciences, secondary findings, Medicine, Female, Cardiomyopathies, Cardiology and Cardiovascular Medicine, cardiomyopathy

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/37652022
http://hdl.handle.net/10044/1/105824
https://www.repository.cam.ac.uk/handle/1810/358072
https://doi.org/10.1016/j.ajhg.2023.08.003

Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: First case reported in Saudi Arabia

Authors: Ahmed Hafez Mousa Hussein Omar Taher Fawziah Alzaid Al Sharif et al.

Source: Radiol Case Rep
Radiology Case Reports, Vol 18, Iss 3, Pp 1000-1004 (2023)

Subject Terms: 0301 basic medicine, Innate Immunity to Viral Infection, Immunology, Family history, R895-920, Case Report, Dental anomalies, DNA Nanotechnology and Bioanalytical Applications, Pediatrics, Medical physics. Medical radiology. Nuclear medicine, Consanguinity, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Genetics, Pathology, Disease, Molecular Biology, Immunology and Microbiology, 2. Zero hunger, 0303 health sciences, FOS: Clinical medicine, Incidence (geometry), Physics, Rehabilitation, Skull, Life Sciences, Optics, Standards and Guidelines for Genetic Variant Interpretation, Inherited disease, 3. Good health, Developmental disabilities, FOS: Biological sciences, Dentistry, Microcephaly, Nanoparticles, Medicine, Surgery, Codas syndrome, Consanguineous Marriage

Access URL: https://pubmed.ncbi.nlm.nih.gov/36684615
https://doaj.org/article/ea7e21a4cdae46d2b2de8ced876d26fd

Nursing students’ genomics literacy: Basis for genomics nursing education course development

Authors: Anndra Parviainen Linda Ward Arja Halkoaho et al.

Source: Teaching and Learning in Nursing. 18:6-11

Subject Terms: literacy, Challenges and Innovations in Bioinformatics Education, Nursing, FOS: Health sciences, Gene, 03 medical and health sciences, nursing, Literacy, Biochemistry, Genetics and Molecular Biology, genomics, Genetics, Psychology, Genetic Testing, Genetic Research on BRCA Mutations and Cancer Risk, development, Molecular Biology, Biology, education, learning, Genome, Pedagogy, 4. Education, Life Sciences, Genomics, Standards and Guidelines for Genetic Variant Interpretation, 16. Peace & justice, teaching, FOS: Psychology, genomic medicine, FOS: Biological sciences, Medicine, Curriculum, 0305 other medical science, course

File Description: application/pdf

Access URL: https://erepo.uef.fi/handle/123456789/29400

GNA12 regulates C5a-induced migration by downregulating C5aR1-PLCβ2-PI3K-AKT-ERK1/2 signaling

Authors: Haonan Yu Zhihua Liu

Source: Biophys Rep

Subject Terms: Cell biology, Immunology, Cancer research, Signal transduction, Gene, Biochemistry, Protein kinase B, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Phosphorylation, 10. No inequality, Biology, Immunology and Microbiology, Inflammation, Interferon-? Pathway Defects, Genetic Basis of Primary Immunodeficiency Disorders, FOS: Clinical medicine, Chemotaxis, Mechanisms of Multidrug Resistance in Cancer, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, 3. Good health, Chemistry, Oncology, Protein subunit, FOS: Biological sciences, PI3K/AKT/mTOR pathway, Medicine, Research Article, Receptor

Access URL: https://pubmed.ncbi.nlm.nih.gov/37426201

Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families

Authors: Muhammad Yasin Laura Licchetta Niamat Khan et al.

Source: BMC Neurol
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

Subject Terms: Male, Exome sequencing, FOS: Computer and information sciences, 0301 basic medicine, Developmental Disabilities, Intellectual disability, Comorbidity, Gene, Comorbidities, ASM-resistant epilepsy, Genetic heterogeneity, 0302 clinical medicine, Pakistan, Missense mutation, Child, Psychiatry, Life Sciences, Epilepsy syndromes, Pedigree, 3. Good health, Psychiatry and Mental health, Phenotype, Environmental health, Neurology, Child, Preschool, Medicine, Molecular Basis of Rett Syndrome and Related Disorders, Female, Adult, Adolescent, Bioinformatics, Population, Pakistani families, Genetic Heterogeneity, Young Adult, 03 medical and health sciences, Clinical profiles, Epilepsy and Seizures, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Health Sciences, Genetics, Frameshift mutation, Humans, RC346-429, Biology, Epilepsy, Research, Standards and Guidelines for Genetic Variant Interpretation, Dravet syndrome, FOS: Biological sciences, Neurology. Diseases of the nervous system

File Description: application/pdf; application/zip

Access URL: https://pubmed.ncbi.nlm.nih.gov/38783254
https://doaj.org/article/a6d685cf2eae43b88b7562fe7c003c6e