Search Results - "Genetics (clinical)"

1

Extrachromosomal DNA amplifications in cancer

Authors: Eunhee Yi, Rocío Chamorro González, Anton G. Henssen, Roel G. W. Verhaak

Source: Yi, E, Chamorro González, R, Henssen, A G & Verhaak, R G W 2022, ' Extrachromosomal DNA amplifications in cancer ', Nature Reviews Genetics, vol. 23, no. 12, pp. 760-771 . https://doi.org/10.1038/s41576-022-00521-5

Subject Terms: Genetics (clinical), Genetics, Molecular Biology

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http://www.scopus.com/inward/record.url?scp=85136004159&partnerID=8YFLogxK

2

Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract

Authors: Zhennan Zhao, Jiahui Chen, Wenyi Yuan, Yongxiang Jiang, Yi Lu

Source: Ophthalmic Genetics. :1-6

Subject Terms: Genetics (clinical), Ophthalmology, Pediatrics, Perinatology and Child Health

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::32e1c8d51329cb1f87961b5b36759fd1
https://doi.org/10.1080/13816810.2022.2092757

3

Hepatic HRC induces hepatocyte pyroptosis and HSCs activation via NLRP3/caspase-1 pathway

Authors: Jingwen Wu, Mingyu Zhang, Suhong Xia, Ping Han, Kai Zhao, Kaixin Peng, Wangdong Zhou, Dean Tian, Jiazhi Liao, Jingmei Liu

Source: Journal of Molecular Medicine. 100:1787-1799

Subject Terms: Genetics (clinical), Drug Discovery, Molecular Medicine

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https://doi.org/10.1007/s00109-022-02270-8

4

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Authors: Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett

Source: Genetics in Medicine. 24:2351-2366

Subject Terms: Genetics (clinical), Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway

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https://doi.org/10.1016/j.gim.2022.08.006

5

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Authors: Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle

Contributors: Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Schreiber, Andreas W, James, U, Shariant Consortium

Source: The American Journal of Human Genetics. 109:1960-1973

Subject Terms: Genetics (clinical), Genetics, genomic variant, Australian laboratories, variant interpretations

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://doi.org/10.1016/j.ajhg.2022.10.006

6

Influence of air humidity on variability of morphological features of Vigna unguiculata (L.) Walp. in artificial conditions

Authors: Ekaterina A. Krylova, Elena K. Khlestkina, Marina O. Burlyaeva

Source: Ecological genetics. 20:215-229

Subject Terms: Genetics (clinical), Genetics, Ecology, Biochemistry, Ecology, Evolution, Behavior and Systematics, Agricultural and Biological Sciences (miscellaneous), Biotechnology, Health, Toxicology and Mutagenesis

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https://doi.org/10.17816/ecogen108877

7

The Association Between the PTPN22 C1858T Variant and Vasculitis: A Meta-analysis Update with Trial Sequential Analysis

Authors: Gwan Gyu Song, Young Ho Lee

Source: Genetic Testing and Molecular Biomarkers. 26:492-500

Subject Terms: Genetics (clinical), General Medicine

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::5c21d9b996eb748265228bcc4e2a6fa8
https://doi.org/10.1089/gtmb.2022.0119

8

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related

Contributors: Neurology, AII - Infectious diseases, Amsterdam Neuroscience - Neuroinfection & -inflammation

Source: Human Mutation, 43(10), 1347-1353. Wiley-Liss Inc.
Human mutation, 43(10), 1347-1353. Wiley-Liss Inc.

Subject Terms: CAPN3, LGMD, LGMD R1 calpain 3-related, calpainopathy, hypomorphic variant, Genetics (clinical), Genetics

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9

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior

Authors: Muhammad Younus, Memoona Rasheed, Zhaohan Lin, Saeed A. Asiri, Ibrahim A. Almazni, Mohammed Ali Alshehri, Sarfraz Shafiq, Imran Iqbal, Amjad Khan, Hanif Ullah, Muhammad Umair, Ahmed Waqas

Source: Molecular Syndromology. :1-10

Subject Terms: Genetics (clinical), Genetics

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::9acd1348ee4a8e4439a56d21d9bef791
https://doi.org/10.1159/000526381

10

Differences in Variants in the Structural Domain of BCR-ABL1 Kinase between Chinese Han and Minority Patients with Chronic Myeloid Leukemia by Sanger Sequencing and Next-Generation Sequencing

Authors: Dilinazi Abulaiti, Niluopaer Tuerxun, Huan Wang, Patiguli Abulizi, Fang Zhao, Yang Liu, Jianping Hao

Source: Cytogenetic and Genome Research. :1-6

Subject Terms: Genetics (clinical), Genetics, Molecular Biology

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https://doi.org/10.1159/000524706

11

Genetic testing in adults with developmental and epileptic encephalopathy – what do we know?

Authors: Ilona Krey, Kathrine M. Johannesen, Oona Kohnen, Johannes R. Lemke

Source: Medizinische Genetik. 34:207-213

Subject Terms: Genetics (clinical), Genetics

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::959220a6719adf29f74e4a6ada2417c6
https://doi.org/10.1515/medgen-2022-2144

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12

Acyloxyacyl hydrolase deficiency induces chronic inflammation and bone loss in male mice

Authors: Xu Cheng, Xiaoting Song, Zhiyan Li, Chiting Yuan, Xinhuan Lei, Mingxuan Feng, Zhenghua Hong, Liwei Zhang, Dun Hong

Source: Journal of Molecular Medicine. 100:1599-1616

Subject Terms: Genetics (clinical), Drug Discovery, Molecular Medicine

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https://doi.org/10.1007/s00109-022-02252-w

13

Transcription factor EB inhibits non-alcoholic fatty liver disease through fibroblast growth factor 21

Authors: Qi Gong, Xie Zhang, Yixuan Sun, Jixiang Shen, Xiuping Li, Chao Xue, Zhihua Liu

Source: Journal of Molecular Medicine. 100:1587-1597

Subject Terms: Genetics (clinical), Drug Discovery, Molecular Medicine

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https://doi.org/10.1007/s00109-022-02256-6

14

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

Authors: Benoit Mazel, Delphine Mallet, Florence Roucher‐Boulez, Candace Ben Signor, Marie Bournez, Véronique Darmency, Valentin Bourgeois, Charlotte Poe, Fares El Khabbaz, Antonio Vitobello, Christophe Philippe, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Sophie Nambot

Source: American Journal of Medical Genetics Part A. 188:3540-3545

Subject Terms: Genetics (clinical), Genetics

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https://doi.org/10.1002/ajmg.a.62966

15

Biallelic CACNA1A variants: Review of literature and report of a child with drug‐resistant epilepsy and developmental delay

Authors: Vivien M. Y. Wong‐Spracklen, Anna Kolesnik, Josefine Eck, Saras Sabanathan, Olivera Spasic‐Boskovic, Anna Maw, Kate Baker

Source: American Journal of Medical Genetics Part A. 188:3306-3311

Subject Terms: Genetics (clinical), Genetics

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::c2de6a927489f92d662d35976c772b23
https://doi.org/10.1002/ajmg.a.62960

16

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa

Source: The American Journal of Human Genetics. 109:1667-1679

Subject Terms: Genetics (clinical), Genetics, Genealogy, Genetic variation, Diversity (politics), media_common.quotation_subject, media_common, Medical genetics, medicine.medical_specialty, medicine, Variation (linguistics), Genetic structure, Geography, Three generations, Genetic diversity

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6573420bffe07059e49ab1061cede26e
https://doi.org/10.1016/j.ajhg.2022.07.013

17

Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes

Authors: Martin H Maurer, Anja Kohler, Melanie Hudemann, Jerome Jüngling, Saskia Biskup, Martin Menzel

Source: The Application of Clinical Genetics. 15:125-131

Subject Terms: Genetics (clinical), Genetics

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https://doi.org/10.2147/tacg.s361239

18

Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm

Authors: Lisa Backwell, Joseph A. Marsh

Source: Backwell, L & Marsh, J A 2022, ' Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations : Beyond the Loss-of-Function Paradigm ', Annual review of genomics and human genetics, vol. 23, pp. 475-498 . https://doi.org/10.1146/annurev-genom-111221-103208

Subject Terms: Genetics (clinical), Genetics, Molecular Biology, activating mutations, dominant negative, gain of function, ligand binding, protein complexes, protein interactions

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https://doi.org/10.1146/annurev-genom-111221-103208

19

Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review

Authors: Ponting, Chris P., Haerty, Wilfried

Source: Ponting, C P & Haerty, W 2022, ' Genome-Wide Analysis of Human Long Noncoding RNAs : A Provocative Review ', Annual review of genomics and human genetics, vol. 23, pp. 153-172 . https://doi.org/10.1146/annurev-genom-112921-123710

Subject Terms: Genetics (clinical), Genetics, Molecular Biology, RNA structure, evolutionary constraint, knockout phenotype, molecular mechanism, subcellular localization, transcriptional noise

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https://doi.org/10.1146/annurev-genom-112921-123710

20

Stress induces major depressive disorder by a neutral sphingomyelinase 2-mediated accumulation of ceramide-enriched exosomes in the blood plasma

Authors: Fabian Schumacher, Alexander Carpinteiro, Michael J. Edwards, Gregory C. Wilson, Simone Keitsch, Matthias Soddemann, Barbara Wilker, Burkhard Kleuser, Katrin Anne Becker, Christian P. Müller, Johannes Kornhuber, Erich Gulbins

Source: Journal of Molecular Medicine. 100:1493-1508

Subject Terms: Genetics (clinical), Drug Discovery, Molecular Medicine, Major depression, Neutral sphingomyelinase 2, Ceramide, Exosomes, Behavior, Neurogenesis, 500 Naturwissenschaften und Mathematik::570 Biowissenschaften, Biologie::570 Biowissenschaften, Biologie, Medizin

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca31c76b429f3f67ab477e9011659358
https://doi.org/10.1007/s00109-022-02250-y

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