المؤلفون: Laura Amendola, Alison Coffey, Samuel Strom, Akanchha Kesari, James Avecilla, Josh Lowry, Stetson Thacker, Julie Taylor, Kathryn Golden-Grant, Matt Brown, Becky Milewski, John Belmont, Denise Perry, Ryan Taft

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100467- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423004673; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/29e7c281859140328181f6ddd9c992a4

المؤلفون: Nick Sarn, Stetson Thacker, Hyunpil Lee, Charis Eng

المصدر: Molecular Autism, Vol 12, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: PTEN mutation, Autism spectrum disorder, Mouse model, Social impairment, Microglia, Complement, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/c33ea060a4a940da90836b4b7b2a3d90

المؤلفون: Stetson Thacker, Charis Eng

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/27a1671a0c874649a0fa9e2d133d2d64

المؤلفون: Shin Chung Kang, Ritika Jaini, Masahiro Hitomi, Hyunpil Lee, Nick Sarn, Stetson Thacker, Charis Eng

المصدر: Molecular Autism, Vol 11, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: PTEN mutation, Neural stem cells, Autism spectrum disorder, Neural development, Neuronal maturation, Creb activation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00337-2; https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/21bd71636b7445fa91f64efb5e54f5e7

المؤلفون: Stetson Thacker, Ata Abbas, Todd Romigh, Ritika Jaini, Donal Luse, Dennis J Grencewicz, Charis Eng

المصدر: Human Molecular Genetics. 30:2135-2148

مصطلحات موضوعية: 0301 basic medicine, Transcription, Genetic, Quantitative Trait Loci, 03 medical and health sciences, Exon, 0302 clinical medicine, Germline mutation, Genetics, medicine, Transcriptional regulation, Humans, PTEN, Promoter Regions, Genetic, Molecular Biology, Gene, Transcription factor, Genetics (clinical), biology, PTEN Phosphohydrolase, Computational Biology, Promoter, General Medicine, Cowden syndrome, medicine.disease, Gene Ontology, 030104 developmental biology, Gene Expression Regulation, 030220 oncology & carcinogenesis, biology.protein, Transcription Initiation Site

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d67f84e2bf1fef2b9ad2769521e202
https://doi.org/10.1093/hmg/ddab175

المؤلفون: Charis Eng, Hyunpil Lee, Stetson Thacker, Nick Sarn

المصدر: Molecular Autism, Vol 12, Iss 1, Pp 1-19 (2021)
Molecular Autism

مصطلحات موضوعية: Tumor suppressor gene, Complement, medicine.disease_cause, Oxytocin, Social impairment, Mouse model, Marble burying, 03 medical and health sciences, Mice, 0302 clinical medicine, Germline mutation, Developmental Neuroscience, Neuroinflammation, medicine, PTEN, Animals, Neurodegeneration, Autism spectrum disorder, Social Behavior, RC346-429, Molecular Biology, Protein kinase B, 030304 developmental biology, Neurons, 0303 health sciences, Mutation, Thigmotaxis, biology, Behavior, Animal, Research, medicine.disease, Psychiatry and Mental health, Disease Models, Animal, Germ Cells, PTEN mutation, biology.protein, Cancer research, Microglia, Neurology. Diseases of the nervous system, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87126feca434accdd1d4732910d05b95
https://doaj.org/article/c33ea060a4a940da90836b4b7b2a3d90

المؤلفون: Charis Eng, Stetson Thacker

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
NPJ Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Proteomics, QH426-470, medicine.disease_cause, Germline, Article, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Genetics, PTEN, Molecular Biology, Gene, Genetics (clinical), Mutation, biology, Autism spectrum disorders, medicine.disease, Phenotype, 030104 developmental biology, Proteome, biology.protein, Autism, Medicine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52bcc0550ea344657504b1f5ed30245f
https://doaj.org/article/27a1671a0c874649a0fa9e2d133d2d64

المؤلفون: Matthew G. Loya, Charis Eng, Alexander T. King, Nicholas Sarn, George R. Stark, Ritika Jaini, Stetson Thacker, Qi Yu

المصدر: Hum Mol Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Receptors, Antigen, T-Cell, alpha-beta, T-Lymphocytes, Biology, 010402 general chemistry, medicine.disease_cause, 01 natural sciences, Germline, Immune tolerance, Mice, 03 medical and health sciences, Germline mutation, Immune Tolerance, Genetics, medicine, Animals, Humans, Tensin, PTEN, Gene Knock-In Techniques, Molecular Biology, Germ-Line Mutation, Genetics (clinical), Cell Proliferation, B-Lymphocytes, Mutation, Toll-Like Receptors, PTEN Phosphohydrolase, General Medicine, Autoimmune regulator, Phenotype, 0104 chemical sciences, Disease Models, Animal, 030104 developmental biology, Cancer research, biology.protein, Female, General Article, Hamartoma Syndrome, Multiple, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa045176012fb5a710d8f67c7c1f2518
https://doi.org/10.1093/hmg/ddaa118

المؤلفون: Charis Eng, Hyunpil Lee, Nicholas Sarn, Stetson Thacker, Ritika Jaini, Ranjan Dutta

المصدر: Molecular Psychiatry

مصطلحات موضوعية: 0301 basic medicine, Autism Spectrum Disorder, Synaptic pruning, Phagocytosis, Article, Mice, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Downregulation and upregulation, Genetics, medicine, Animals, PTEN, Autistic Disorder, Molecular Biology, Neuronal Plasticity, biology, Microglia, PTEN Phosphohydrolase, Cell migration, Autism spectrum disorders, Phenotype, Cell biology, Cortex (botany), Disease Models, Animal, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, nervous system, biology.protein, 030217 neurology & neurosurgery, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01c08106251c4eee001b42f7b6ff3d5
https://doi.org/10.1038/s41380-020-0681-0

المؤلفون: Marilyn Seyfi, Iris Nira Smith, Charis Eng, Feixiong Cheng, Stetson Thacker

المصدر: The American Journal of Human Genetics. 104:861-878

مصطلحات موضوعية: Protein Conformation, Allosteric regulation, Computational biology, Molecular Dynamics Simulation, Interactome, Article, Germline, 03 medical and health sciences, 0302 clinical medicine, Allosteric Regulation, Human interactome, Neoplasms, Genetics, medicine, Humans, PTEN, Gene Regulatory Networks, Autistic Disorder, Germ-Line Mutation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, PTEN Phosphohydrolase, Cancer, medicine.disease, Phenotype, biology.protein, Thermodynamics, Structural communication, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc368f010ff4ba893ebf1dc360ed6daa
https://doi.org/10.1016/j.ajhg.2019.03.009

المؤلفون: Ata Abbas, Stetson Thacker, Todd Romigh, Charis Eng, Dennis J Grencewicz, Ritika Jaini, Donal Luse

مصطلحات موضوعية: Genetics, Germline mutation, Somatic cell, medicine, Mutation testing, biology.protein, Coding region, PTEN, Cowden syndrome, Biology, medicine.disease, Transcription factor, Germline

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2777fcec3c745a5208e45a226b6df9c4
https://doi.org/10.1101/2021.04.23.441162

المؤلفون: Brian J. O'Roak, Taylor L. Mighell, Eric Fombonne, Charis Eng, Stetson Thacker

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Adolescent, Hamartoma, Mutation, Missense, Datasets as Topic, Logistic regression, Article, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Neoplasms, Genotype, Genetics, medicine, PTEN, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Genetic Association Studies, Aged, Aged, 80 and over, biology, Incidence, PTEN Phosphohydrolase, Cancer, Odds ratio, Middle Aged, medicine.disease, Prognosis, Phenotype, 030104 developmental biology, Logistic Models, Autism spectrum disorder, Child, Preschool, biology.protein, Autism, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b036796bf8a81918982c690d1780fc0
https://europepmc.org/articles/PMC7273526/

المؤلفون: Marilyn Sefyi, Stetson Thacker, Charis Eng

المصدر: Translational Psychiatry
Translational Psychiatry, Vol 10, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: 0301 basic medicine, Spliceosome, Autism Spectrum Disorder, medicine.disease_cause, Article, lcsh:RC321-571, Transcriptome, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mice, 0302 clinical medicine, medicine, PTEN, Animals, Autistic Disorder, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Genetics, U2AF2, Mutation, biology, Alternative splicing, PTEN Phosphohydrolase, Genomics, Autism spectrum disorders, Phenotype, Psychiatry and Mental health, Alternative Splicing, Disease Models, Animal, 030104 developmental biology, RNA splicing, biology.protein, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eacd64ac21991fb1d3f1eb5c77b6f56
https://pubmed.ncbi.nlm.nih.gov/33159038

المؤلفون: Ritika Jaini, Iris Nira Smith, Stetson Thacker, Charis Eng

المصدر: Journal of Biomolecular Structure and Dynamics. 37:1766-1782

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Tumor suppressor gene, Autism Spectrum Disorder, Protein Conformation, 030303 biophysics, Mutation, Missense, Molecular Dynamics Simulation, Biology, Article, Germline, Structure-Activity Relationship, 03 medical and health sciences, Germline mutation, Structural Biology, Catalytic Domain, Neoplasms, medicine, Humans, Tensin, PTEN, Genetic Predisposition to Disease, Molecular Biology, Alleles, Germ-Line Mutation, 0303 health sciences, Binding Sites, Protein Stability, PTEN Phosphohydrolase, Cancer, General Medicine, medicine.disease, Phenotype, Amino Acid Substitution, Cancer research, biology.protein, Autism, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701efbb27498a41b5737fdbec8a19387
https://doi.org/10.1080/07391102.2018.1465854

المؤلفون: Kang, Shin Chung, Ritika Jaini, Hitomi, Masahiro, Hyunpil Lee, Sarn, Nick, Stetson Thacker, Eng, Charis

مصطلحات موضوعية: nervous system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f6194de1f118efe53c371338e624fc4

المؤلفون: Stetson Thacker, Charis Eng, Brian J. O'Roak, Eric Fombonne, Taylor L. Mighell

مصطلحات موضوعية: Oncology, 0303 health sciences, medicine.medical_specialty, Cancer, Odds ratio, Biology, Logistic regression, medicine.disease, Phenotype, Germline, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, medicine, biology.protein, Autism, PTEN, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f10179e15b95b662bf9b0d22f5f3431
https://doi.org/10.1101/2019.12.18.19015297

المؤلفون: Ronen Schweitzer, Sheila M. Adams, Dirk Hubmacher, Stetson Thacker, Zerina Balic, Suneel S. Apte, Nandaraj Taye, David E. Birk

المصدر: Matrix Biol

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Pathology, medicine.medical_specialty, Fibrillin-2, Mesenchyme, Fibrillin-1, Limb Deformities, Congenital, Biology, Fibrillins, Article, Tendons, 03 medical and health sciences, Mice, 0302 clinical medicine, ADAMTS Proteins, Fibrillin Microfibrils, medicine, Limb development, Animals, Humans, Molecular Biology, Bone growth, Bone Diseases, Developmental, Cartilage, Gene Expression Regulation, Developmental, Extremities, medicine.disease, Tendon, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Animals, Newborn, Dysplasia, Organ Specificity, 030220 oncology & carcinogenesis, Microfibril, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f954afa7d06a8d407812de9c6bf3f5b6
https://europepmc.org/articles/PMC6685762/

المؤلفون: Nicholas Sarn, Hyunpil Lee, Charis Eng, Stetson Thacker, Ranjan Dutta

المصدر: Translational Psychiatry
Translational Psychiatry, Vol 9, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: Male, 0301 basic medicine, Proteolipid protein 1, Autism Spectrum Disorder, Neurogenesis, Cellular differentiation, Mutation, Missense, Article, lcsh:RC321-571, White matter, Mice, 03 medical and health sciences, Cellular and Molecular Neuroscience, Myelin, 0302 clinical medicine, medicine, Animals, PTEN, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Cells, Cultured, Biological Psychiatry, Oligodendrocyte Precursor Cells, biology, Leukodystrophy, PTEN Phosphohydrolase, Brain, Cell Differentiation, medicine.disease, Oligodendrocyte, Cell biology, Disease Models, Animal, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, nervous system, biology.protein, Female, Neuroglia, Myelin Proteins, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32fa362179ac60d2f671c62d96818d1
https://doi.org/10.1038/s41398-018-0364-7

المؤلفون: Dirk Hubmacher, Ronen Schweitzer, Sheila M. Adams, Suneel S. Apte, Stetson Thacker, David E. Birk

مصطلحات موضوعية: musculoskeletal diseases, Bone growth, 0303 health sciences, Achilles tendon, Pathology, medicine.medical_specialty, Mesenchyme, Soft tissue, Biology, medicine.disease, Tendon, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Dysplasia, Fibrillin Microfibrils, medicine, Fibrillin, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e05942b73eaeaa2d393134e4662e10
https://doi.org/10.1101/307496

المؤلفون: Belinda Willard, Stetson Thacker, Rakesh Sharma, Dongmei Zhang, Ashok Agarwal, Satya P. Yadav, Anthony H. Kashou

المصدر: Fertility and Sterility. 95:2745-2748

مصطلحات موضوعية: Male, Proteomics, Gene isoform, endocrine system, Seminal Plasma Proteins, Pilot Projects, Semen, Biology, Seminal Vesicle Secretory Proteins, Male infertility, Andrology, medicine, Humans, Electrophoresis, Gel, Two-Dimensional, Amino Acid Sequence, Infertility, Male, Glycoproteins, Ohio, Gel electrophoresis, Chromatography, Reverse-Phase, Clusterin, Membrane Transport Proteins, Obstetrics and Gynecology, Prostate-Specific Antigen, medicine.disease, Spermatozoa, Sperm, Molecular Weight, Fertility, Reproductive Medicine, Case-Control Studies, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, biology.protein, Carrier Proteins, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0da47a1e53810b59d36d148bf749d52
https://doi.org/10.1016/j.fertnstert.2011.03.112