PMC Articles for MedGen (Select 440716) - PMC

Malgorzata Zatyka, Tatiana R. Rosenstock, Congxin Sun, Adina M. Palhegyi, Georgina W. Hughes, Samuel Lara-Reyna, Dewi Astuti, Alessandro di Maio, Axel Sciauvaud, Miriam E. Korsgen, Vesna Stanulovic, Gamze Kocak, Malgorzata Rak, Sandra Pourtoy-Brasselet, Katherine Winter, Thiago Varga, Margot Jarrige, Hélène Polvèche, Joao Correia, Eva-Maria Frickel, Maarten Hoogenkamp, Douglas G. Ward, Laetitia Aubry, Timothy Barrett, Sovan Sarkar

Stem Cell Reports. 2023 May 9; 18(5): 1090–1106. Published online 2023 May 9. doi: 10.1016/j.stemcr.2023.04.002

PMCID:: PMC10202695

Abstract Article PDF–8.1M

Select item 102063105.

Genetic testing for misclassified monogenic diabetes in Māori and Pacific peoples in Aōtearoa New Zealand with early-onset type 2 diabetes

Zanetta Toomata, Megan Leask, Mohanraj Krishnan, Murray Cadzow, Nicola Dalbeth, Lisa K. Stamp, Janak de Zoysa, Tony Merriman, Phillip Wilcox, Ofa Dewes, Rinki Murphy

Front Endocrinol (Lausanne) 2023; 14: 1174699. Published online 2023 May 10. doi: 10.3389/fendo.2023.1174699

PMCID:: PMC10206310

Abstract Article PDF–497K

Select item 102088736.

3例Waardenburg综合征患儿分子遗传学及临床特征分析

林钻平, 唐杰, 贠露, 周凯, 黄兰诚, 瞿申红, 王涛, 莫静群, 李凤提, 唐凤珠

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Feb 3; 37(2): 107–112. Chinese. doi: 10.13201/j.issn.2096-7993.2023.02.006

PMCID:: PMC10208873

Abstract Article PDF–6.5M

Select item 102089837.

Modeling disrupted synapse formation in wolfram syndrome using hESCs-derived neural cells and cerebral organoids identifies Riluzole as a therapeutic molecule

Fei Yuan, Yana Li, Rui Hu, Mengting Gong, Mengyao Chai, Xuefei Ma, Jiaxue Cha, Pan Guo, Kaijiang Yang, Mushan Li, Minglu Xu, Qing Ma, Qiang Su, Chuan Zhang, Zhejin Sheng, Heng Wu, Yuan Wang, Wen Yuan, Shan Bian, Li Shao, Ru Zhang, Kaicheng Li, Zhen Shao, Zhen-Ning Zhang, Weida Li

Mol Psychiatry. 2023; 28(4): 1557–1570. Published online 2023 Feb 7. doi: 10.1038/s41380-023-01987-3

PMCID:: PMC10208983

Abstract Article PDF–7.4M

Select item 102103288.

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

Yoshinari Obata, Kana Takayama, Hideyuki Nishikubo, Aoki Tobimatsu, Izumi Matsuda, Yuhei Uehara, Yumiko Maruo, Hiroyuki Sho, Motohiro Kosugi, Tetsuyuki Yasuda

BMC Endocr Disord. 2023; 23: 118. Published online 2023 May 25. doi: 10.1186/s12902-023-01373-8

PMCID:: PMC10210328

Abstract Article PDF–1.5M

Select item 102185069.

phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes

Jessica E. MacLean, Jaime N. Wertman, Sergey V. Prykhozhij, Emily Chedrawe, Stewart Langley, Shelby L. Steele, Kevin Ban, Kim Blake, Jason N. Berman

Genes (Basel) 2023 May; 14(5): 1086. Published online 2023 May 15. doi: 10.3390/genes14051086

PMCID:: PMC10218506

Abstract Article PDF–1.5M

Select item 1021857210.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

Int J Mol Sci. 2023 May; 24(10): 8729. Published online 2023 May 13. doi: 10.3390/ijms24108729

PMCID:: PMC10218572

Abstract Article PDF–2.3M

Select item 1021860911.

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov

Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001

PMCID:: PMC10218609

Abstract Article PDF–2.1M

Select item 1021902112.

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

Yoel Hirsch, Wendy K. Chung, Sergey Novoselov, Louis H. Weimer, Alexander Rossor, Charles A. LeDuc, Amanda J. McPartland, Ernesto Cabrera, Josef Ekstein, Sholem Scher, Rick F. Nelson, Giampietro Schiavo, Lindsay B. Henderson, Kevin T. A. Booth

Int J Mol Sci. 2023 May; 24(10): 8897. Published online 2023 May 17. doi: 10.3390/ijms24108897

PMCID:: PMC10219021

Abstract Article PDF–844K

Select item 1021992613.

Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients

Kenji Nakamichi, Russell N. Van Gelder, Jennifer R. Chao, Debarshi Mustafi

Sci Rep. 2023; 13: 8535. Published online 2023 May 26. doi: 10.1038/s41598-023-35791-4

PMCID:: PMC10219926

Abstract Article PDF–2.4M

Select item 1022029414.

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient

Yao Qin, Yi’nan Ma, Zhen’gang Zeng, Zhen Zhong, Yu Qi, Yuhe Liu

J Clin Lab Anal. 2023 Apr; 37(7): e24886. Published online 2023 Apr 27. doi: 10.1002/jcla.24886

PMCID:: PMC10220294

Abstract Article PDF–837K

Select item 1023818315.

Guodong Hong, Xiaolong Fu, Xin Chen, Liyan Zhang, Xuan Han, Shuqin Ding, Ziyi Liu, Xiuli Bi, Wen Li, Miao Chang, Ruifeng Qiao, Siwei Guo, Hailong Tu, Renjie Chai

Adv Sci (Weinh) 2023 Jun; 10(16): 2205754. Published online 2023 Apr 17. doi: 10.1002/advs.202205754

PMCID:: PMC10238183

Abstract Article PDF–11M

Select item 1023819716.

Deafness‐Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment

Ying Guan, Hai‐Bo Du, Zhao Yang, Yu‐Zhu Wang, Rui Ren, Wen‐Wen Liu, Chao Zhang, Jia‐Hai Zhang, Wen‐Tao An, Na‐Na Li, Xiao‐Xue Zeng, Jie Li, Yi‐Xiao Sun, Yan‐Fei Wang, Fan Yang, Jun Yang, Wei Xiong, Xiao Yu, Ren‐Jie Chai, Xiao‐Ming Tu, Jin‐Peng Sun, Zhi‐Gang Xu

Adv Sci (Weinh) 2023 Jun; 10(16): 2205993. Published online 2023 Apr 17. doi: 10.1002/advs.202205993

PMCID:: PMC10238197

Abstract Article PDF–7.8M

Select item 1018294017.

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice

Qing Li, Chong Cui, Rongyu Liao, Xidi Yin, Daqi Wang, Yanbo Cheng, Bowei Huang, Liqin Wang, Meng Yan, Jinan Zhou, Jingjing Zhao, Wei Tang, Yingyi Wang, Xiaohan Wang, Jun Lv, Jinsong Li, Huawei Li, Yilai Shu

Cell Mol Life Sci. 2023 Jun; 80(6): 148. Published online 2023 May 13. doi: 10.1007/s00018-023-04794-9

PMCID:: PMC10182940

Abstract Article PDF–2.9M

Select item 1024056418.

Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers

Mansour Alkobtawi, Patrick Pla, Brigitte Onteniente, Subham Seal, Véronique Pingault, Sandrine Marlin, Anne H. Monsoro-Burq

Stem Cell Res. 2023 Jun; 69: 103074. doi: 10.1016/j.scr.2023.103074

PMCID:: PMC10240564

Abstract Article

Select item 1024178019.

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes

Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong Ji

Sci Rep. 2023; 13: 9127. Published online 2023 Jun 5. doi: 10.1038/s41598-023-36334-7

PMCID:: PMC10241780

Abstract Article PDF–929K

Select item 1024218420.

Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain‐dependent

Dana R. Hodorovich, Patrick M. Lindsley, Austen A. Berry, Derek F. Burton, Kurt C. Marsden

Genes Brain Behav. 2023 Jun; 22(3): e12839. Published online 2023 Jan 30. doi: 10.1111/gbb.12839

PMCID:: PMC10242184

Abstract Article PDF–8.5M

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