PMC Articles for MedGen (Select 370930) - PMC

Marija Dubaic, Lucie Peskova, Marek Hampl, Kamila Weissova, Canan Celiker, Natalia A Shylo, Eva Hruba, Michaela Kavkova, Tomas Zikmund, Scott D Weatherbee, Jozef Kaiser, Tomas Barta, Marcela Buchtova

Life Sci Alliance. 2023 Dec; 6(12): e202302073. Published online 2023 Oct 20. doi: 10.26508/lsa.202302073

PMCID:: PMC10589122

Article PDF–5.2M

Select item 103883924.

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

Hanya M Qureshi, Kedous Y Mekbib, Garrett Allington, Aladine A Elsamadicy, Phan Q Duy, Adam J Kundishora, Sheng Chih Jin, Kristopher T Kahle

Cereb Cortex. 2023 Mar 15; 33(6): 3012–3025. Published online 2022 Jul 18. doi: 10.1093/cercor/bhac257

PMCID:: PMC10388392

Article PDF–566K

Select item 101124005.

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype

BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos Milla, Adam J. Shapiro, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Federico Mollica, Harm A. W. M. Tiddens, Mariette Kemner-van de Corput, Michael R. Knowles, Stephanie D. Davis, Margaret W. Leigh

Ann Am Thorac Soc. 2023 Apr 1; 20(4): 539–547. Published online 2023 Apr 1. doi: 10.1513/AnnalsATS.202206-524OC

PMCID:: PMC10112400

Article PDF–952K

Select item 98407266.

Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility

Yunhao Li, Yong Li, Ying Wang, Lanlan Meng, Chen Tan, Juan Du, Yue-Qiu Tan, Hongchuan Nie, Qianjun Zhang, Guangxiu Lu, Ge Lin, Huanzhu Li, Huan Zhang, Chaofeng Tu

J Assist Reprod Genet. 2023 Jan; 40(1): 41–51. Published online 2022 Dec 14. doi: 10.1007/s10815-022-02681-z

PMCID:: PMC9840726

Article PDF–2.6M

Select item 93242897.

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital

Mariana Dalbo Contrera Toro, José Dirceu Ribeiro, Fernando Augusto Lima Marson, Érica Ortiz, Adyléia Aparecida Dalbo Contrera Toro, Carmen Silvia Bertuzzo, Marcus Herbert Jones, Eulália Sakano

Genes (Basel) 2022 Jul; 13(7): 1252. Published online 2022 Jul 15. doi: 10.3390/genes13071252

PMCID:: PMC9324289

Article PDF–993K

Select item 92107978.

Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening

Rui Zheng, Wenhao Yang, Yuting Wen, Liang Xie, Fang Shi, Danli Lu, Jiaxin Luo, Yan Li, Rui Zhang, Ting Chen, Lina Chen, Wenming Xu, Hanmin Liu

Cell Death Dis. 2022 Jun; 13(6): 559. Published online 2022 Jun 21. doi: 10.1038/s41419-022-05010-5

PMCID:: PMC9210797

Article PDF–12M

Select item 89950979.

The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia

Amanda J. Smith, Ximena M. Bustamante-Marin, Weining Yin, Patrick R. Sears, Laura E. Herring, Nedyalka N. Dicheva, Francesc López-Giráldez, Shrikant Mane, Robert Tarran, Margaret W. Leigh, Michael R. Knowles, Maimoona A. Zariwala, Lawrence E. Ostrowski

J Cell Sci. 2022 Mar 15; 135(6): jcs259512. Published online 2022 Mar 31. doi: 10.1242/jcs.259512

PMCID:: PMC8995097

Article

Select item 888684210.

Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF

Chuan Xu, Dongdong Tang, Zhongmei Shao, Hao Geng, Yang Gao, Kuokuo Li, Qing Tan, Guanxiong Wang, Chao Wang, Huan Wu, Guanjian Li, Mingrong Lv, Xiaojin He, Yunxia Cao

Reprod Biol Endocrinol. 2022; 20: 41. Published online 2022 Mar 1. doi: 10.1186/s12958-022-00916-3

Correction in:: Reprod Biol Endocrinol. 2022; 20: 74.

PMCID:: PMC8886842

Article PDF–3.9M

Select item 852263911.

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

Jintao Zhang, Xiaojin He, Huan Wu, Xin Zhang, Shenmin Yang, Chunyu Liu, Siyu Liu, Rong Hua, Shushu Zhou, Shuqin Zhao, Fan Hu, Junqiang Zhang, Wangjie Liu, Huiru Cheng, Yang Gao, Feng Zhang, Yunxia Cao, Mingxi Liu

Hum Mol Genet. 2021 Nov 1; 30(21): 1996–2011. Published online 2021 Jun 24. doi: 10.1093/hmg/ddab171

PMCID:: PMC8522639

Article PDF–3.2M

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Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review

Lina Wang, Xin Zhao, Hang Liang, Li Zhang, Chunyan Li, Deli Li, Xiangfeng Meng, Fanzheng Meng, Mao Gao

BMC Pulm Med. 2021; 21: 263. Published online 2021 Aug 14. doi: 10.1186/s12890-021-01586-4

PMCID:: PMC8364053

Article PDF–1.5M

Select item 821473313.

Ccdc103 promotes myeloid cell proliferation and migration independent of motile cilia

Lauren G. Falkenberg, Sarah A. Beckman, Padmapriyadarshini Ravisankar, Tracy E. Dohn, Joshua S. Waxman

Dis Model Mech. 2021 May 1; 14(5): dmm048439. Published online 2021 May 24. doi: 10.1242/dmm.048439

PMCID:: PMC8214733

Article

Select item 812972514.

Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China

Yuhong Guan, Haiming Yang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaolei Tang, Chanjuan Hao, Xiang Zhang, Shunying Zhao, Wentong Ge, Xin Ni

Chest. 2021 May; 159(5): 1768–1781. Published online 2021 Feb 10. doi: 10.1016/j.chest.2021.02.006

PMCID:: PMC8129725

Article PDF–1.6M

Select item 765416815.

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta

BMC Med Genet. 2020; 21: 220. Published online 2020 Nov 10. doi: 10.1186/s12881-020-01160-5

PMCID:: PMC7654168

Article PDF–804K

Select item 764686716.

Novel dynein axonemal assembly factor 1 mutations identified using whole-exome sequencing in patients with primary ciliary dyskinesia

Lei Zhou, Zhuozhe Li, Chunling Du, Cuicui Chen, Yingxin Sun, Liang Gu, Feng Zhou, Yuanlin Song

Mol Med Rep. 2020 Dec; 22(6): 4707–4715. Published online 2020 Oct 6. doi: 10.3892/mmr.2020.11562

PMCID:: PMC7646867

Article PDF–643K

Select item 729813117.

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

Sheng Deng, Shan Wu, Hong Xia, Wei Xiong, Xiong Deng, Junxi Liao, Hao Deng, Lamei Yuan

Biosci Rep. 2020 Jun 26; 40(6): BSR20192510. Published online 2020 Jun 16. doi: 10.1042/BSR20192510

PMCID:: PMC7298131

Article PDF–1.3M

Select item 718303918.

Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection

Huan Wu, Jiajia Wang, Huiru Cheng, Yang Gao, Wangjie Liu, Zhiguo Zhang, Huanhuan Jiang, Weiyu Li, Fuxi Zhu, Mingrong Lv, Chunyu Liu, Qing Tan, Xiaofeng Zhang, Chao Wang, Xiaoqing Ni, Yujie Chen, Bing Song, Ping Zhou, Zhaolian Wei, Feng Zhang, Xiaojin He, Yunxia Cao

J Assist Reprod Genet. 2020 Apr; 37(4): 829–840. Published online 2020 Mar 2. doi: 10.1007/s10815-020-01721-w

PMCID:: PMC7183039

Article PDF–1.1M

Select item 661704819.

Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients

Dongliang Zhu, Hongguo Zhang, Ruixue Wang, Xiaojun Liu, Yuting Jiang, Tao Feng, Ruizhi Liu, Guirong Zhang

Biosci Rep. 2019 Jun 28; 39(6): BSR20181450. Prepublished online 2019 Jun 3. Published online 2019 Jun 20. doi: 10.1042/BSR20181450

PMCID:: PMC6617048

Article PDF–537K

Select item 654812020.

Proteome of the central apparatus of a ciliary axoneme

Lei Zhao, Yuqing Hou, Tyler Picariello, Branch Craige, George B. Witman

J Cell Biol. 2019 Jun 28; 218(6): 2051–2070. Published online 2019 May 15. doi: 10.1083/jcb.201902017

PMCID:: PMC6548120

Article PDF–2.6M

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