المؤلفون: Rodrigo S Lacruz, Rajamani Lakshminarayanan, Keith M Bromley, Joseph G Hacia, Timothy G Bromage, Malcolm L Snead, Janet Moradian-Oldak, Michael L Paine

المصدر: PLoS ONE, Vol 6, Iss 3, p e18028 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3060920?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a5ff45e7a0054f8d8f5b9d06fab9aa1a

المؤلفون: Lillian R. Thistlethwaite, Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman, Michael F. Wangler, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/310f472f536f4ec6800d411142c0cff3

المؤلفون: Catherine Argyriou, Anna Polosa, Ji Yun Song, Samy Omri, Bradford Steele, Bruno Cécyre, Devin S. McDougald, Erminia Di Pietro, Jean-François Bouchard, Jean Bennett, Joseph G. Hacia, Pierre Lachapelle, Nancy E. Braverman

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 225-240 (2021)

مصطلحات موضوعية: peroxisome biogenesis disorder, Zellweger spectrum disorder, PEX1, retinal gene therapy, AAV therapy, metabolic disorder gene therapy, Genetics, QH426-470, Cytology, QH573-671

Relation: http://www.sciencedirect.com/science/article/pii/S2329050121001376; https://doaj.org/toc/2329-0501; https://doaj.org/article/8cbf07d636cf46afa1661d18efa2eb4c

الاتاحة: https://doi.org/10.1016/j.omtm.2021.09.002
https://doaj.org/article/8cbf07d636cf46afa1661d18efa2eb4c

المؤلفون: Joseph G. Hacia, Mazen W. Karaman, Shailender Nagpal, Danny Chawannakul, Vincent V. Ho, John E. Biaglow, Mimi Mesfin, Dale Miles, Cheryl Lepp, Richard A. Miller, Philip Lecane, Darren Magda

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ddd411520d7bdb66b06744f30a7001b
https://doi.org/10.1158/0008-5472.22364985

المؤلفون: Jonathan L. Sessler, Joseph G. Hacia, Viktor Csokai, Wenhao Wei, Vincent Lynch, Xiaoming Wang, Patricia K. Dranchak, Xuan Ma, Patricia Thiemann, Weilin Hu, Zhong Wang, Philip Lecane, Darren Magda

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc71d87e7a29dfdcb2eb951d7c0401d3
https://doi.org/10.1158/0008-5472.22376124.v1

المؤلفون: Joseph G. Hacia, Mazen W. Karaman, Shailender Nagpal, Danny Chawannakul, Vincent V. Ho, John E. Biaglow, Mimi Mesfin, Dale Miles, Cheryl Lepp, Richard A. Miller, Philip Lecane, Darren Magda

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93fb0062de37344a6661265c9df619aa
https://doi.org/10.1158/0008-5472.c.6494472.v1

المؤلفون: Jonathan L. Sessler, Joseph G. Hacia, Viktor Csokai, Wenhao Wei, Vincent Lynch, Xiaoming Wang, Patricia K. Dranchak, Xuan Ma, Patricia Thiemann, Weilin Hu, Zhong Wang, Philip Lecane, Darren Magda

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2727f3699679d654230a6a5622daaf
https://doi.org/10.1158/0008-5472.22376118.v1

المؤلفون: Catherine, Argyriou, Anna, Polosa, Ji Yun, Song, Samy, Omri, Bradford, Steele, Bruno, Cécyre, Devin S, McDougald, Erminia, Di Pietro, Jean-François, Bouchard, Jean, Bennett, Joseph G, Hacia, Pierre, Lachapelle, Nancy E, Braverman

المصدر: Molecular Therapy. Methods & Clinical Development

مصطلحات موضوعية: PEX1, retinal gene therapy, Zellweger spectrum disorder, metabolic disorder gene therapy, peroxisome biogenesis disorder, exportomer, Original Article, AAV therapy, PEX5

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3f8aa50923c0af1a5b2428d165b56020
https://pubmed.ncbi.nlm.nih.gov/34703844

المؤلفون: Ophir D. Klein, Trevor Williams, Richard A. Spritz, James F. Brinkley, Thach-Vu Ho, Matthew P. Harris, Robert Aho, Kenneth L. Jones, Robert Schuler, Ethylin Wang Jabs, Greg Holmes, Hong Li, Jaaved Mohammed, Joseph G. Hacia, Harm van Bakel, Na Lu, Yuan Yuan, Joanna Wysocka, Carl Kesselman, Ian C. Welsh, Eric C. Liao, Licia Selleri, Richard L. Maas, Ana S. Gonzalez-Reiche, Tomek Swigut, Joan E. Hooper, Hannah Long, Yang Chai, Mary L. Marazita, Elizabeth J. Leslie, Axel Visel, Cristina Williams, Sara L. Prescott, Shannon Fisher, Karissa Hansen, Alejandro Bugacov, Benedikt Hallgrímsson, Bridget Samuels, Eleanor Feingold

المصدر: Development (Cambridge, England), vol 147, iss 18
Development

مصطلحات موضوعية: Databases, Factual, Mouse, Data management, Interoperability, Big data, Dental Research, Biology, Medical and Health Sciences, Facial Bones, 03 medical and health sciences, Databases, Techniques and Resources, 0302 clinical medicine, Resource (project management), Animals, Humans, Dental/Oral and Craniofacial Disease, Aetiology, Molecular Biology, FaceBase Consortium, Factual, Zebrafish, 030304 developmental biology, Pediatric, 0303 health sciences, business.industry, Skull, Findability, Reproducibility of Results, Biological Sciences, Data science, Research Personnel, Data sharing, Data resource, Networking and Information Technology R&D (NITRD), FaceBase, Faceted search, Congenital Structural Anomalies, business, 030217 neurology & neurosurgery, Craniofacial development, 2.6 Resources and infrastructure (aetiology), Developmental Biology, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a09791c443536af8971feede5571a92
https://escholarship.org/uc/item/1cc7h8g1

المؤلفون: Catherine Argyriou, Panteha Saberian, Sara Birjandian, Gillian E. MacLean, Joseph G. Hacia, Nancy Braverman, Erminia Di Pietro, Xuting Sun

المصدر: Journal of Cellular Biochemistry. 120:3243-3258

مصطلحات موضوعية: 0301 basic medicine, Green Fluorescent Proteins, Drug Evaluation, Preclinical, Pharmacology, Biochemistry, Peroxisomal Targeting Signals, Cell Line, 03 medical and health sciences, chemistry.chemical_compound, Adenosine Triphosphate, 0302 clinical medicine, Peroxisomes, Null cell, medicine, Humans, Zellweger Syndrome, Molecular Biology, Alleles, Flavonoids, Dose-Response Relationship, Drug, Chemistry, Membrane Proteins, Cell Biology, Fibroblasts, Peroxisome, Null allele, Diosmetin, 3. Good health, Pharmacological chaperone, 030104 developmental biology, 030220 oncology & carcinogenesis, ATPases Associated with Diverse Cellular Activities, Drug Therapy, Combination, PEX1, Chemical chaperone, PEX6, Molecular Chaperones, Signal Transduction, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2e1270b08c6dd56c667c371dd7847e
https://doi.org/10.1002/jcb.27591

المؤلفون: Rodrigo S. Lacruz, Rajamani Lakshminarayanan, Keith M. Bromley, Joseph G. Hacia, Timothy G, Malcolm L. Snead, Janet Moradian-oldak, Michael L. Paine

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/d8/88/PLoS_One_2011_Mar_18_6(3)_e18028.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.349.6444

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.349.6444

المؤلفون: Zhong Wang, Philip S Lecane, Patricia Thiemann, Qing Fan, Cecilia Cortez, Xuan Ma, Danielle Tonev, Dale Miles, Louie Naumovski, Richard A Miller, Darren Magda, Dong-gyu Cho, Jonathan L Sessler, Brian L Pike, Samantha M Yeligar, Mazen W Karaman, Joseph G Hacia

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/ed/45/Mol_Cancer_2007_Jan_19_6_9.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.280.754

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.280.754

المؤلفون: Shailender Nagpal, Mazen W. Karaman, Michelle M. Timmerman, Vincent V. Ho, Brian L. Pike, Joseph G. Hacia

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://nar.oxfordjournals.org/content/32/5/e51.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.330.8241; http://nar.oxfordjournals.org/content/32/5/e51.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.330.8241
http://nar.oxfordjournals.org/content/32/5/e51.full.pdf

المؤلفون: Mazen W. Karaman, Susan Groshen, Chi-chiang Lee, Brian L. Pike, Joseph G. Hacia

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://nar.oxfordjournals.org/content/33/3/e33.full-text-lowres.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.596.9928; http://nar.oxfordjournals.org/content/33/3/e33.full-text-lowres.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.596.9928
http://nar.oxfordjournals.org/content/33/3/e33.full-text-lowres.pdf

المؤلفون: Elisheva Smith, Todd E. Meyerrose, Thomas Kohler, Malka Namdar-attar, Natti Bab, Olga Lahat, Tommy Noh, Jingjing Li, Mazen W. Karaman, Joseph G. Hacia, Ting T. Chen, Jan A. Nolta, Itai Bab, Baruch Frenkel

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/9c/7b/Nucleic_Acids_Res_2005_Mar_1_33(4)_1298-1308.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.5992

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.5992

المؤلفون: John J Ely, Florian Eichler, Joseph G. Hacia, Steven J. Steinberg, Ann Snowden, Julian Curiel, Holly Dubbs, Ann B. Moser, Adeline Vanderver, Sarah Bright, Alisa D. Gean, Jocelyn Bezner

المصدر: Molecular Genetics and Metabolism. 122:130-133

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Pathology, medicine.medical_specialty, Pan troglodytes, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Biology, Corpus callosum, ATP Binding Cassette Transporter, Subfamily D, Member 1, Biochemistry, White matter, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Coenzyme A Ligases, Genetics, medicine, Animals, Humans, Age of Onset, Adrenoleukodystrophy, Molecular Biology, Genetic Association Studies, medicine.diagnostic_test, Leukodystrophy, Genetic disorder, Brain, Magnetic resonance imaging, Sequence Analysis, DNA, medicine.disease, Lipids, Magnetic Resonance Imaging, Frontal Lobe, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Frontal lobe, Mutation, Female, Age of onset, 030217 neurology & neurosurgery, Demyelinating Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c57be9cf6fe6409d1d98b65ffc2775b
https://doi.org/10.1016/j.ymgme.2017.08.012

المؤلفون: Xiao-ming Wang, Wing Yan Yik, Peilin Zhang, Wange Lu, Patricia K Dranchak, Darryl Shibata, Steven J Steinberg, Joseph G Hacia

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://stemcellres.com/content/pdf/scrt130.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.388.1548; http://stemcellres.com/content/pdf/scrt130.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.388.1548
http://stemcellres.com/content/pdf/scrt130.pdf

المؤلفون: Jie Ren, Jian-Bing Fan, Inderbir S. Gill, Joseph G. Hacia, Siamak Daneshmand, Mariana C. Stern, Ahva Shahabi, Andy Sherrod, Jacek Pinski, Craig April, Juan Pablo Lewinger

المصدر: The Prostate. 76:1239-1256

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, business.industry, Prostatectomy, Urology, medicine.medical_treatment, Gene signature, Logistic regression, medicine.disease, Bioinformatics, 03 medical and health sciences, Prostate cancer, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Prostate, 030220 oncology & carcinogenesis, Internal medicine, medicine, Population study, business, Lymph node, Radical retropubic prostatectomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f2724bb5689f51e123472ecc0992453
https://doi.org/10.1002/pros.23211

المؤلفون: Wenting Lin, Jing Guo, Michael L. Paine, Joseph G. Hacia, Malcolm L. Snead, Kaifeng Yin, Toshihiro Sugiyama

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, Amelogenesis Imperfecta, Endosomes, Biology, Article, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, stomatognathic system, Dental Enamel Proteins, Amelogenesis, Lysosome, medicine, Ameloblasts, Animals, Amelogenesis imperfecta, Dental Enamel, Cells, Cultured, Mice, Inbred BALB C, Multidisciplinary, Enamel paint, 030206 dentistry, medicine.disease, Endocytosis, Cell biology, MicroRNAs, 030104 developmental biology, medicine.anatomical_structure, visual_art, visual_art.visual_art_medium, CLTC, Ameloblast, Lysosomes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d367c72a215a789223e4faa108993fb

المؤلفون: Phyllis L. Faust, Nancy Braverman, Gerald V. Raymond, Ann B. Moser, Joseph G. Hacia, Amanda M. Lauer, Jean Bennett, Paul A. Watkins, Donald J. Zack, Shandi Hiebler, Nivedita Chowdhury, Anita Liu, Tomohiro Masuda, Steven J. Steinberg, Ning Huang

المصدر: Molecular Genetics and Metabolism. 111:522-532

مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Biology, medicine.disease_cause, Bioinformatics, Biochemistry, Retina, Article, Bile Acids and Salts, Mice, Sexual Behavior, Animal, Endocrinology, Hearing, Internal medicine, Genetics, medicine, Animals, Humans, Missense mutation, Allele, Zellweger Syndrome, Molecular Biology, Vision, Ocular, Skin, Adenosine Triphosphatases, Zellweger syndrome, Mutation, Gene Expression Profiling, Fatty Acids, Membrane Proteins, Heterozygote advantage, Fibroblasts, medicine.disease, Survival Analysis, Mice, Mutant Strains, Infantile Refsum disease, Disease Models, Animal, Phenotype, Animals, Newborn, ATPases Associated with Diverse Cellular Activities, Female, PEX1, Growth and Development, Neonatal adrenoleukodystrophy, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff63ec4a06d421b7018855f714246f35
https://doi.org/10.1016/j.ymgme.2014.01.008