PMC Articles for MedGen (Select 393051) - PMC

Lynne Rumping, Marja W. Wessels, Alex V. Postma, Joost van Schuppen, Marjon A. van Slegtenhorst, Jasper J. Saris, J. Peter van Tintelen, Stephen P. Robertson, Mariëlle Alders, Saskia M. Maas, Ronald H. Lekanne Deprez

Am J Med Genet A. 2021 Dec; 185(12): 3814–3820. Published online 2021 Jul 13. doi: 10.1002/ajmg.a.62417

PMCID:: PMC9292317

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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz

Orphanet J Rare Dis. 2022; 17: 29. Published online 2022 Jan 31. doi: 10.1186/s13023-021-02068-w

PMCID:: PMC8802438

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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Victoria E. R. Parker, Arthur Sorlin, Sylvie Fraitag, Jean-Benoît Courcet, Yannis Duffourd, Diana Rodriguez, Rachel G. Knox, Satyamaanasa Polubothu, Anne Boland, Robert Olaso, Marc Delepine, Véronique Darmency, Melissa Riachi, Chloé Quelin, Paul Rollier, Louise Goujon, Sarah Grotto, Yline Capri, Marie-Line Jacquemont, Sylvie Odent, Daniel Amram, Martin Chevarin, Catherine Vincent-Delorme, Benoît Catteau, Laurent Guibaud, Alexis Arzimanoglou, Malika Keddar, Catherine Sarret, Patrick Callier, Didier Bessis, David Geneviève, Jean-François Deleuze, Christel Thauvin, Robert K. Semple, Christophe Philippe, Jean-Baptiste Rivière, Veronica A. Kinsler, Laurence Faivre, Pierre Vabres

Genet Med. 2021; 23(8): 1484–1491. Published online 2021 Apr 8. doi: 10.1038/s41436-021-01161-6

Correction in:: Genet Med. 2021; 23(8): 1585.

PMCID:: PMC8354853

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Quantifying the contribution of Neanderthal introgression to the heritability of complex traits

Evonne McArthur, David C. Rinker, John A. Capra

Nat Commun. 2021; 12: 4481. Published online 2021 Jul 22. doi: 10.1038/s41467-021-24582-y

PMCID:: PMC8298587

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Genetics of white color and iridophoroma in “Lemon Frost” leopard geckos

Longhua Guo, Joshua Bloom, Steve Sykes, Elaine Huang, Zain Kashif, Elise Pham, Katarina Ho, Ana Alcaraz, Xinshu Grace Xiao, Sandra Duarte-Vogel, Leonid Kruglyak

PLoS Genet. 2021 Jun; 17(6): e1009580. Published online 2021 Jun 24. doi: 10.1371/journal.pgen.1009580

PMCID:: PMC8224956

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Comparative transcriptome analysis reveals key genes associated with pigmentation in radish (Raphanus sativus L.) skin and flesh

Jifang Zhang, Jian Zhao, Qunyun Tan, Xiaojun Qiu, Shiyong Mei

Sci Rep. 2021; 11: 11434. Published online 2021 Jun 1. doi: 10.1038/s41598-021-90633-5

PMCID:: PMC8169917

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Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions

Lihi Atzmony, Theodore D. Zaki, Richard J. Antaya, Keith A. Choate

Am J Med Genet A. Author manuscript; available in PMC 2021 Feb 28.

Published in final edited form as: Am J Med Genet A. 2019 Dec; 179(12): 2469–2473. Published online 2019 Sep 30. doi: 10.1002/ajmg.a.61362

PMCID:: PMC7914397

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

Jenna E. Rayner, David L. Duffy, Darren J. Smit, Kasturee Jagirdar, Katie J. Lee, Brian De’Ambrosis, B. Mark Smithers, Erin K. McMeniman, Aideen M. McInerney-Leo, Helmut Schaider, Mitchell S. Stark, H. Peter Soyer, Richard A. Sturm

PLoS One. 2020; 15(9): e0238529. Published online 2020 Sep 23. doi: 10.1371/journal.pone.0238529

PMCID:: PMC7510969

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Transcriptome analysis of feather follicles reveals candidate genes and pathways associated with pheomelanin pigmentation in chickens

Xiaotong Zheng, Bo Zhang, Yawen Zhang, Haian Zhong, Ruixue Nie, Junying Li, Hao Zhang, Changxin Wu

Sci Rep. 2020; 10: 12088. Published online 2020 Jul 21. doi: 10.1038/s41598-020-68931-1

PMCID:: PMC7374586

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GPNMB is expressed in human epidermal keratinocytes but disappears in the vitiligo lesional skin

Kazal Boron Biswas, Aya Takahashi, Yukiko Mizutani, Satoru Takayama, Asako Ishitsuka, Lingli Yang, Fei Yang, Arunasiri Iddamalgoda, Ichiro Katayama, Shintaro Inoue

Sci Rep. 2020; 10: 4930. Published online 2020 Mar 18. doi: 10.1038/s41598-020-61931-1

PMCID:: PMC7080742

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Tyrosinase gene mutations in the Chinese Han population with OCA1

NING LIU, XIANG DONG KONG, HUI RONG SHI, QING HUA WU, MIAO JIANG

Genet Res (Camb) 2014; 96: e14. Published online 2014 Nov 12. doi: 10.1017/S0016672314000160

PMCID:: PMC7045076

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Myosin 10 is involved in murine pigmentation

Kifayathullah Liakath‐Ali, Valerie E. Vancollie, Inês Sequeira, Christopher J. Lelliott, Fiona M. Watt

Exp Dermatol. 2019 Apr; 28(4): 391–394. Published online 2018 Apr 24. doi: 10.1111/exd.13528

PMCID:: PMC6519374

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The poverty of adult morphology: Bioacoustics, genetics, and internal tadpole morphology reveal a new species of glassfrog (Anura: Centrolenidae: Ikakogi) from the Sierra Nevada de Santa Marta, Colombia

Marco Rada, Pedro Henrique Dos Santos Dias, José Luis Pérez-Gonzalez, Marvin Anganoy-Criollo, Luis Alberto Rueda-Solano, María Alejandra Pinto-E, Lilia Mejía Quintero, Fernando Vargas-Salinas, Taran Grant

PLoS One. 2019; 14(5): e0215349. Published online 2019 May 8. doi: 10.1371/journal.pone.0215349

PMCID:: PMC6506205

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Two new structural mutations in the 5′ region of the ASIP gene cause diluted feather color phenotypes in Japanese quail

Annie Robic, Mireille Morisson, Sophie Leroux, David Gourichon, Alain Vignal, Noémie Thebault, Valérie Fillon, Francis Minvielle, Bertrand Bed’Hom, Tatiana Zerjal, Frédérique Pitel

Genet Sel Evol. 2019; 51: 12. Published online 2019 Apr 15. doi: 10.1186/s12711-019-0458-6

PMCID:: PMC6466734

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A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry

Manjari Jonnalagadda, Muhammad Ashhad Faizan, Shantanu Ozarkar, Richa Ashma, Shaunak Kulkarni, Heather L Norton, Esteban Parra

Genome Biol Evol. 2019 Apr; 11(4): 1066–1076. Published online 2019 Mar 21. doi: 10.1093/gbe/evz057

PMCID:: PMC6456006

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Select item 645265918.

Exaggerated heterochiasmy in a fish with sex-linked male coloration polymorphisms

Roberta Bergero, Jim Gardner, Beth Bader, Lengxob Yong, Deborah Charlesworth

Proc Natl Acad Sci U S A. 2019 Apr 2; 116(14): 6924–6931. Published online 2019 Mar 20. doi: 10.1073/pnas.1818486116

PMCID:: PMC6452659

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A new minute Pristimantis (Amphibia: Anura: Strabomantidae) from the Andes of southern Ecuador

Paul Székely, Juan Sebastián Eguiguren, Diana Székely, Leonardo Ordóñez-Delgado, Diego Armijos-Ojeda, María Lorena Riofrío-Guamán, Dan Cogălniceanu

PLoS One. 2018; 13(8): e0202332. Published online 2018 Aug 29. doi: 10.1371/journal.pone.0202332

PMCID:: PMC6114709

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Select item 561990020.

Catastrophic Unbalanced Genome Rearrangements Cause Somatic Loss of Berry Color in Grapevine

Pablo Carbonell-Bejerano, Carolina Royo, Rafael Torres-Pérez, Jérôme Grimplet, Lucie Fernandez, José Manuel Franco-Zorrilla, Diego Lijavetzky, Elisa Baroja, Juana Martínez, Enrique García-Escudero, Javier Ibáñez, José Miguel Martínez-Zapater

Plant Physiol. 2017 Oct; 175(2): 786–801. Published online 2017 Aug 15. doi: 10.1104/pp.17.00715

PMCID:: PMC5619900

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