PMC Articles for MedGen (Select 480031) - PMC

Tomokatsu Udagawa, Erisa Takahashi, Norifumi Tatsumi, Hideki Mutai, Hiroki Saijo, Yuko Kondo, Patrick J. Atkinson, Tatsuo Matsunaga, Mamoru Yoshikawa, Hiromi Kojima, Masataka Okabe, Alan G. Cheng

Sci Rep. 2024; 14: 2210. Published online 2024 Jan 26. doi: 10.1038/s41598-024-52629-9

PMCID:: PMC10817906

Article PDF–7.8M

Select item 108170515.

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease

Nikoletta Nagy, Margit Pal, Jozsef Kun, Bence Galik, Peter Urban, Marta Medvecz, Beata Fabos, Alexandra Neller, Aliasgari Abdolreza, Judit Danis, Viktoria Szabo, Zhuo Yang, Stefanie Fenske, Martin Biel, Attila Gyenesei, Eva Adam, Marta Szell

Int J Mol Sci. 2024 Jan; 25(2): 1271. Published online 2024 Jan 20. doi: 10.3390/ijms25021271

PMCID:: PMC10817051

Article PDF–1.6M

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mTORC1 activity negatively regulates human hair follicle growth and pigmentation

Takahiro Suzuki, Jérémy Chéret, Fernanda Dinelli Scala, Aysun Akhundlu, Jennifer Gherardini, Dana‐Lee Demetrius, James D B O'Sullivan, Gorana Kuka Epstein, Alan J Bauman, Constantinos Demetriades, Ralf Paus

EMBO Rep. 2023 Jul; 24(7): e56574. Published online 2023 May 22. doi: 10.15252/embr.202256574

PMCID:: PMC10328083

Article PDF–4.4M

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A CDH23 missense variant in Beauceron dogs with non‐syndromic deafness

Marie Abitbol, Vidhya Jagannathan, Marie Lopez, Ambre Courtin, Caroline Dufaure de Citres, Vincent Gache, Tosso Leeb

Anim Genet. 2023 Feb; 54(1): 73–77. Published online 2022 Oct 28. doi: 10.1111/age.13273

PMCID:: PMC10092623

Article PDF–3.2M

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Whole-body analysis of TRPML3 (MCOLN3) expression using a GFP-reporter mouse model reveals widespread expression in secretory cells and endocrine glands

Barbara Spix, Andrew J. Castiglioni, Natalie N. Remis, Emma N. Flores, Philipp Wartenberg, Amanda Wyatt, Ulrich Boehm, Thomas Gudermann, Martin Biel, Jaime García-Añoveros, Christian Grimm

PLoS One. 2022; 17(12): e0278848. Published online 2022 Dec 15. doi: 10.1371/journal.pone.0278848

PMCID:: PMC10045552

Article PDF–7.4M

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Altered levels of lymphocyte enhancer-binding factor-1 modulates the pigmentation in acral and non-acral lesions of non-segmental vitiligo patients: a follow-up-based study in North India

Debidutt Nayak, Niharika Srivastava, Anubha Dev, Anuradha Bishnoi, Muthu Sendhil Kumaran, Keshavamurthy Vinay, Davinder Parsad

Arch Dermatol Res. 2023 Mar 6 : 1–7. doi: 10.1007/s00403-023-02585-7 [Epub ahead of print]

PMCID:: PMC9987393

Abstract Article PDF–845K

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The rat Downunder (Du) coat color mutation is associated with eye anomalies and embryonic lethality and maps to a 3.9-Mb region on chromosome 3

Hoang Trung Hieu, Miyuu Tanaka, Mitsuru Kuwamura, Tomoji Mashimo, Tadao Serikawa, Takashi Kuramoto

Exp Anim. 2023; 72(1): 88–94. Published online 2022 Sep 19. doi: 10.1538/expanim.22-0086

PMCID:: PMC9978131

Article PDF–1.3M

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Caizhixuan hair tonic regulates both apoptosis and the PI3K/Akt pathway to treat androgenetic alopecia

Tingting Fang, Ruofei Xu, Shaopeng Sun, Yineng He, Yi Yan, Hongyang Fu, Hongbin Luo, Yi Cao, Maocan Tao

PLoS One. 2023; 18(2): e0282427. Published online 2023 Feb 24. doi: 10.1371/journal.pone.0282427

PMCID:: PMC9956876

Article PDF–3.0M

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1例Angelman综合征合并眼皮肤白化病2型患者的临床和遗传学分析及文献回顾

周秋君, 龚潘, 焦莶如, 杨志仙

Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Feb 18; 55(1): 181–185. Chinese. Published online 2022 Apr 13. doi: 10.19723/j.issn.1671-167X.2023.01.028

PMCID:: PMC9894804

Article PDF–1.4M

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A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P₂ and causes lysosome acidification and hypopigmentation

Qiaochu Wang, Zengge Wang, Yizhen Wang, Zhan Qi, Dayong Bai, Chentong Wang, Yuanying Chen, Wenjian Xu, Xili Zhu, Jaepyo Jeon, Jian Xiong, Chanjuan Hao, Michael Xi Zhu, Aihua Wei, Wei Li

Nat Commun. 2023; 14: 226. Published online 2023 Jan 14. doi: 10.1038/s41467-023-35786-9

PMCID:: PMC9840614

Article PDF–5.0M

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In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3‐related mutant variants

Monika B. Dolinska, David E. Anderson, Yuri V. Sergeev

Protein Sci. 2023 Jan; 32(1): e4518. Published online 2023 Jan 1. doi: 10.1002/pro.4518

PMCID:: PMC9793978

Article PDF–4.1M

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OCA7 is a melanosome membrane protein that defines pigmentation by regulating early stages of melanosome biogenesis

Wyatt C. Beyers, Anna M. Detry, Santiago M. Di Pietro

J Biol Chem. 2022 Dec; 298(12): 102669. Published online 2022 Nov 9. doi: 10.1016/j.jbc.2022.102669

PMCID:: PMC9703636

Article PDF–5.1M

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Focal Dermal Hypoplasia with Osteopathia Striata

Shefa S. Almashaqbeh, Diana S. Aljammal, Hend M. Alharahsheh, Samer F. Alqudah, Rana A. Alkrimeen

Med Arch. 2022 Aug; 76(4): 301–304. doi: 10.5455/medarh.2022.76.301-304

PMCID:: PMC9559906

Article PDF–277K

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Assessing the Activation of Tyrosine Kinase KIT through Free Energy Calculations

Angélica Sandoval-Pérez, Beth Apsel Winger, Matthew P. Jacobson

J Chem Theory Comput. 2022 Oct 11; 18(10): 6251–6258. Published online 2022 Sep 27. doi: 10.1021/acs.jctc.2c00526

Correction in:: J Chem Theory Comput. 2023 Jan 10; 19(1): 376.

PMCID:: PMC9558371

Article PDF–2.3M

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Genetic analyses of Vietnamese patients with oculocutaneous albinism

Ma Thi Huyen Thuong, Luong Thi Lan Anh, Vu Phuong Nhung, Tran Thi Bich Ngoc, Hoang Thu Lan, Doan Kim Phuong, Nguyen Hai Ha, Nong Van Hai, Nguyen Dang Ton

J Clin Lab Anal. 2022 Sep; 36(9): e24625. Published online 2022 Jul 23. doi: 10.1002/jcla.24625

PMCID:: PMC9459276

Article PDF–2.2M

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Eye and Hair Color Prediction of Ancient and Second World War Skeletal Remains Using a Forensic PCR-MPS Approach

Irena Zupanič Pajnič, Tomaž Zupanc, Tamara Leskovar, Matija Črešnar, Paolo Fattorini

Genes (Basel) 2022 Aug; 13(8): 1432. Published online 2022 Aug 12. doi: 10.3390/genes13081432

PMCID:: PMC9407562

Article PDF–2.1M

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Identification of two new recessive MC1R alleles in red‐coloured Evolèner cattle and other breeds

Miriam Hauser, Heidi Signer‐Hasler, Luzia Küttel, Aurélien Capitan, Bernt Guldbrandtsen, Dirk Hinrichs, Christine Flury, Franz R. Seefried, Cord Drögemüller

Anim Genet. 2022 Jun; 53(3): 427–435. Published online 2022 Apr 22. doi: 10.1111/age.13206