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Items: 1 to 20 of 27

1.
Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss
Xianlin Liu, Jie Wen, Xuezhong Liu, Anhai Chen, Sijun Li, Jing Liu, Jie Sun, Wei Gong, Xiaoming Kang, Zhili Feng, Chufeng He, Lingyun Mei, Jie Ling, Yong Feng
PLoS One. 2023; 18(9): e0288640. Published online 2023 Sep 14. doi: 10.1371/journal.pone.0288640
PMCID:
PMC10501637
ArticlePubReaderPDF–3.0MCite
2.
LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature
Giammarco De Mattia, Michele Maffi, Marta Mosca, Maurizio Mazzantini
Arch Osteoporos. 2023; 18(1): 112. Published online 2023 Sep 2. doi: 10.1007/s11657-023-01319-6
PMCID:
PMC10474981
ArticlePubReaderPDF–873KCite
3.
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
Alexandra Frohne, Martin Koenighofer, Hakan Cetin, Michael Nieratschker, David T. Liu, Franco Laccone, Juergen Neesen, Stefan F. Nemec, Ursula Schwarz-Nemec, Christian Schoefer, Karen B. Avraham, Klemens Frei, Katharina Grabmeier-Pfistershammer, Bernhard Kratzer, Klaus Schmetterer, Winfried F. Pickl, Thomas Parzefall
Hum Genet. 2023; 142(8): 1077–1089. Published online 2022 Nov 29. doi: 10.1007/s00439-022-02506-0
PMCID:
PMC10449960
ArticlePubReaderPDF–4.6MCite
4.
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, Byunghwa Noh, Hye Ji Choi, Sun Young Joo, John Hoon Rim, Hye-Youn Kim, Dong Yun Kim, Seyoung Yu, Da Hye Kim, Sang-Guk Lee, Jinsei Jung, Jae Young Choi, Heon Yung Gee
Autophagy. 2022; 18(11): 2593–2614. Published online 2022 Mar 6. doi: 10.1080/15548627.2022.2040891
PMCID:
PMC9629061
ArticlePubReaderPDF–8.5MCite
5.
NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies
Chiara Moltrasio, Maurizio Romagnuolo, Angelo Valerio Marzano
Front Immunol. 2022; 13: 1007705. Published online 2022 Oct 6. doi: 10.3389/fimmu.2022.1007705
PMCID:
PMC9583146
ArticlePubReaderPDF–1.3MCite
6.
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1
Maya Chopra, Richard Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, Marc-Lionel Bellaiche, Veronique Abadie, Marine Parodi, Francoise Denoyelle, Andrew Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin
Eur J Hum Genet. 2022 Aug; 30(8): 960–966. Published online 2022 May 20. doi: 10.1038/s41431-022-01118-6
PMCID:
PMC9349287
ArticlePubReaderPDF–1.4MCite
7.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti
Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 13. Published online 2021 Feb 12. doi: 10.1167/iovs.62.2.13
PMCID:
PMC7884295
ArticlePubReaderPDF–1.2MCite
8.
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami
BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4
PMCID:
PMC7110654
ArticlePubReaderPDF–727KCite
9.
Plerixafor for the Treatment of WHIM Syndrome
David H. McDermott, Diana V. Pastrana, Katherine R. Calvo, Stefania Pittaluga, Daniel Velez, Elena Cho, Qian Liu, Hugh H. Trout, III, João F. Neves, Pamela J. Gardner, David A. Bianchi, Elizabeth A. Blair, Emily M. Landon, Susana L. Silva, Christopher B. Buck, Philip M. Murphy
N Engl J Med. Author manuscript; available in PMC 2019 Jul 10.
Published in final edited form as: N Engl J Med. 2019 Jan 10; 380(2): 163–170. doi: 10.1056/NEJMoa1808575
PMCID:
PMC6425947
ArticlePubReaderPDF–1011KCite
10.
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE
Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang, Huifang Xie
BMC Neurol. 2018; 18: 174. Published online 2018 Oct 20. doi: 10.1186/s12883-018-1177-2
PMCID:
PMC6195733
ArticlePubReaderPDF–2.0MCite
11.
Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
Yan-ping Xu, Li-ping Shi, Jiajun Zhu
BMC Pediatr. 2018; 18: 203. Published online 2018 Jun 26. doi: 10.1186/s12887-018-1181-0
PMCID:
PMC6020284
ArticlePubReaderPDF–1023KCite
12.
MYH9: STRUCTURE, FUNCTIONS AND ROLE OF NON-MUSCLE MYOSIN IIA IN HUMAN DISEASE
Alessandro Pecci, Xuefei Ma, Anna Savoia, Robert S. Adelstein
Gene. Author manuscript; available in PMC 2019 Jul 20.
Published in final edited form as: Gene. 2018 Jul 20; 664: 152–167. Published online 2018 Apr 19. doi: 10.1016/j.gene.2018.04.048
PMCID:
PMC5970098
ArticlePubReaderPDF–1.2MCite
13.
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung
BMC Med Genet. 2017; 18: 151. Published online 2017 Dec 19. doi: 10.1186/s12881-017-0511-7
PMCID:
PMC5735594
ArticlePubReaderPDF–1.3MCite
14.
A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2
Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu, Yongyi Yuan
BMC Med Genet. 2017; 18: 36. Published online 2017 Mar 24. doi: 10.1186/s12881-017-0396-5
PMCID:
PMC5366164
ArticlePubReaderPDF–2.8MCite
15.
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders
Jonathan Baets, Xiaohui Duan, Yanhong Wu, Gordon Smith, William W. Seeley, Inès Mademan, Nicole M. McGrath, Noah C. Beadell, Julie Khoury, Maria-Victoria Botuyan, Georges Mer, Gregory A. Worrell, Kaori Hojo, Jessica DeLeon, Matilde Laura, Yo-Tsen Liu, Jan Senderek, Joachim Weis, Peter Van den Bergh, Shana L. Merrill, Mary M. Reilly, Henry Houlden, Murray Grossman, Steven S. Scherer, Peter De Jonghe, Peter J. Dyck, Christopher J. Klein
Brain. 2015 Apr; 138(4): 845–861. Published online 2015 Feb 10. doi: 10.1093/brain/awv010
PMCID:
PMC5014076
ArticlePubReaderPDF–1.4MCite
16.
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel TMC1 mutations
Nele Hilgert, Fatemeh Alasti, Nele Dieltjens, Barbara Pawlik, Bernd Wollnik, Oya Uyguner, Sedigheh Delmaghani, Dominique Weil, Christine Petit, Evi Danis, Tao Yang, Efthimia Pandelia, Michael B. Petersen, Dirk Goossens, Jurgen Del Favero, Mohammad Hossein Sanati, Richard JH Smith, Guy Van Camp
Clin Genet. Author manuscript; available in PMC 2016 Jan 29.
Published in final edited form as: Clin Genet. 2008 Sep; 74(3): 223–232. Published online 2008 Jul 9. doi: 10.1111/j.1399-0004.2008.01053.x
PMCID:
PMC4732719
ArticlePubReaderPDF–552KCite
17.
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family
Mei-Na Li-Yang, Xiao-Fei Shen, Qin-Jun Wei, Jun Yao, Ya-Jie Lu, Xin Cao, Guang-Qian Xing
Chin Med J (Engl) 2015 Sep 20; 128(18): 2510–2515. doi: 10.4103/0366-6999.164980
PMCID:
PMC4725571
ArticlePubReaderPDF–1.4MCite
18.
HDR syndrome in a Japanese girl with biliary atresia: a case report
Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Yousuke Fujii, Hiroyuki Tanaka, Hirokazu Tsukahara
BMC Pediatr. 2016; 16: 14. Published online 2016 Jan 22. doi: 10.1186/s12887-016-0550-9
PMCID:
PMC4724082
ArticlePubReaderPDF–619KCite
19.
Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations
Majdi Nagara, Konstantinos Voskarides, Sonia Nouira, Nizar Ben Halim, Rym Kefi, Hajer Aloulou, Lilia Romdhane, Rim Ben Abdallah, Faten Ben Rhouma, Khaoula Aissa, Lamia Boughamoura, Thouraya Kammoun, Hatem Azzouz, Saoussen Abroug, Hathemi Ben Turkia, Abdelkarim Ayadi, Ridha Mrad, Imen Chabchoub, Mongia Hachicha, Jalel Chemli, Constantinos Deltas, Sonia Abdelhak
Genet Test Mol Biomarkers. 2014 Nov 1; 18(11): 741–748. doi: 10.1089/gtmb.2014.0175
PMCID:
PMC4217022
ArticlePubReaderPDF–441KCite
20.
Juvenile Paget’s Disease With Heterozygous Duplication In TNFRSF11A Encoding RANK
Michael P. Whyte, Cristina Tau, William H. McAlister, Xiafang Zhang, Deborah V. Novack, Virginia Preliasco, Eduardo Santini-Araujo, Steven Mumm
Bone. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Bone. 2014 Nov; 68: 153–161. Published online 2014 Jul 23. doi: 10.1016/j.bone.2014.07.019
PMCID:
PMC4189967
ArticlePubReaderPDF–2.4MCite

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