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Select item 105055361.

Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors

Smita Jha, James Welch, Rana Tora, Justin Lack, Andrew Warner, Jaydira del Rivero, Samira M Sadowski, Naris Nilubol, Laura S Schmidt, W Marston Linehan, Lee S Weinstein, William F Simonds, Sunita K Agarwal

J Clin Endocrinol Metab. 2023 Oct; 108(10): 2686–2698. Published online 2023 Mar 20. doi: 10.1210/clinem/dgad136

PMCID:: PMC10505536

Article

Select item 102650932.

Role of FLCN Phosphorylation in Insulin‐Mediated mTORC1 Activation and Tumorigenesis

Guoyan Wang, Lei Chen, Xinjian Lei, Senlin Qin, Huijun Geng, Yining Zheng, Chao Xia, Junhu Yao, Tong Meng, Lu Deng

Adv Sci (Weinh) 2023 Jun; 10(17): 2206826. Published online 2023 Apr 21. doi: 10.1002/advs.202206826

PMCID:: PMC10265093

Article PDF–5.9M

Select item 102312443.

Folliculin Prevents Lysosomal Degradation of Human Papillomavirus To Support Infectious Cell Entry

Yoshiyuki Ishii, Toshiyuki Yamaji, Tsuyoshi Sekizuka, Yuta Homma, Seiichiro Mori, Takamasa Takeuchi, Iwao Kukimoto

J Virol. 2023 May; 97(5): e00056-23. Published online 2023 May 11. doi: 10.1128/jvi.00056-23

PMCID:: PMC10231244

Article PDF–4.2M

Select item 101768904.

Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome

Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H. Ryu, Xiaowen Hu

Orphanet J Rare Dis. 2023; 18: 115. Published online 2023 May 12. doi: 10.1186/s13023-023-02710-9

PMCID:: PMC10176890

Article PDF–1.2M

Select item 97034465.

Frequency of Truncating FLCN Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population

Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane

Genet Med. Author manuscript; available in PMC 2022 Nov 28.

Published in final edited form as: Genet Med. 2022 Sep; 24(9): 1857–1866. Published online 2022 May 31. doi: 10.1016/j.gim.2022.05.006

PMCID:: PMC9703446

Article PDF–792K

Select item 91448236.

Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases

Wangji Zhou, Keqiang Liu, Kai-Feng Xu, Yaping Liu, Xinlun Tian

Int J Gen Med. 2022; 15: 5111–5121. Published online 2022 May 23. doi: 10.2147/IJGM.S359660

PMCID:: PMC9144823

Article PDF–1.0M

Select item 90446367.

Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN

Anindita Ray, Esita Chattopadhyay, Richa Singh, Saurabh Ghosh, Arnab Bera, Mridul Sarma, Mahavir Munot, Unnati Desai, Sujeet Rajan, Pralhad Prabhudesai, Ashish K. Prakash, Sushmita Roy Chowdhury, Niladri Bhowmick, Raja Dhar, Zarir F. Udwadia, Atin Dey, Subhra Mitra, Jyotsna M. Joshi, Arindam Maitra, Bidyut Roy

Orphanet J Rare Dis. 2022; 17: 176. Published online 2022 Apr 27. doi: 10.1186/s13023-022-02326-5

PMCID:: PMC9044636

Article PDF–1.7M

Select item 88535028.

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha, Maritta Hellström Pigg, Ylva Paulsson-Karlsson, Magnus Nordenskjöld, Maria Johansson-Soller, Christos Aravidis

PLoS One. 2022; 17(2): e0264056. Published online 2022 Feb 17. doi: 10.1371/journal.pone.0264056

PMCID:: PMC8853502

Article PDF–671K

Select item 85925519.

Folliculin impairs breast tumor growth by repressing TFE3-dependent induction of the Warburg effect and angiogenesis

Leeanna El-Houjeiri, Marco Biondini, Mathieu Paquette, Helen Kuasne, Alain Pacis, Morag Park, Peter M. Siegel, Arnim Pause

J Clin Invest. 2021 Nov 15; 131(22): e144871. Published online 2021 Nov 15. doi: 10.1172/JCI144871

PMCID:: PMC8592551

Article PDF–19M

Select item 856083610.

A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours

Kenki Matsumoto, Derek Lim, Paul D. Pharoah, Eamonn R. Maher, Stefan J. Marciniak

Eur J Hum Genet. 2021 Nov; 29(11): 1595–1600. Published online 2021 Jul 15. doi: 10.1038/s41431-021-00921-x

PMCID:: PMC8560836

Article PDF–547K

Select item 825895511.

Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome

Elżbieta Radzikowska, Urszula Lechowicz, Jolanta Winek, Lucyna Opoka

Orphanet J Rare Dis. 2021; 16: 302. Published online 2021 Jul 6. doi: 10.1186/s13023-021-01931-0

PMCID:: PMC8258955

Article PDF–777K

Select item 814442812.

Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells

Shouichi Okamoto, Hiroki Ebana, Masatoshi Kurihara, Keiko Mitani, Etsuko Kobayashi, Takuo Hayashi, Yasuhito Sekimoto, Koichi Nishino, Mizuto Otsuji, Toshio Kumasaka, Kazuhisa Takahashi, Kuniaki Seyama

Sci Rep. 2021; 11: 10814. Published online 2021 May 24. doi: 10.1038/s41598-021-90184-9

PMCID:: PMC8144428

Article PDF–2.1M

Select item 807813713.

A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review

Minghui Cai, Xinxin Zhang, Lizhen Fan, Shuwen Cheng, Abdukahar Kiram, Shaoqin Cen, Baofu Chen, Minhua Ye, Qian Gao, Chengchu Zhu, Long Yi, Dehua Ma

Front Genet. 2021; 12: 636900. Published online 2021 Apr 1. doi: 10.3389/fgene.2021.636900

PMCID:: PMC8078137

Article PDF–1.1M

Select item 690039214.

A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax

Burcu Genc Yavuz, Esra Guzel Tanoglu, Seda Salman Yılmaz, Sahin Colak

Mol Genet Genomic Med. 2019 Dec; 7(12): e1003. Published online 2019 Oct 18. doi: 10.1002/mgg3.1003

PMCID:: PMC6900392

Article PDF–633K

Select item 683106015.

Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation

Chun-Ming Zheng, Xiao-Xing Hu, Yan-Li Gao, Jin-Bai Miao, Hui Li

Chin Med J (Engl) 2019 Oct 20; 132(20): 2402–2407. Published online 2019 Oct 20. doi: 10.1097/CM9.0000000000000442

PMCID:: PMC6831060

Article PDF–427K

Select item 604898516.

BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes

Hisashi Hasumi, Mitsuko Furuya, Kenji Tatsuno, Shogo Yamamoto, Masaya Baba, Yukiko Hasumi, Yasuhiro Isono, Kae Suzuki, Ryosuke Jikuya, Shinji Otake, Kentaro Muraoka, Kimito Osaka, Narihiko Hayashi, Kazuhide Makiyama, Yasuhide Miyoshi, Keiichi Kondo, Noboru Nakaigawa, Takashi Kawahara, Koji Izumi, Junichi Teranishi, Yasushi Yumura, Hiroji Uemura, Yoji Nagashima, Adam R Metwalli, Laura S Schmidt, Hiroyuki Aburatani, W Marston Linehan, Masahiro Yao

Hum Mol Genet. 2018 Aug 1; 27(15): 2712–2724. Published online 2018 May 14. doi: 10.1093/hmg/ddy181

PMCID:: PMC6048985

Article PDF–1.1M

Select item 577676817.

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang

BMC Med Genet. 2018; 19: 14. Published online 2018 Jan 22. doi: 10.1186/s12881-017-0519-z

PMCID:: PMC5776768

Article PDF–2.4M

Select item 552966618.

Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome

Lv Liu, Kai Yang, Xiang Wang, Zhihui Shi, Yifeng Yang, Yu Yuan, Ting Guo, Xiaocui Xiao, Hong Luo

Biomed Res Int. 2017; 2017: 8751384. Published online 2017 Jul 12. doi: 10.1155/2017/8751384

PMCID:: PMC5529666

Article PDF–2.3M

Select item 545033319.

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang

Orphanet J Rare Dis. 2017; 12: 104. Published online 2017 May 30. doi: 10.1186/s13023-017-0656-7

PMCID:: PMC5450333

Article PDF–3.6M

Select item 508304020.

A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation

Takuro Yukawa, Takuya Fukazawa, Masakazu Yoshida, Ichiro Morita, Katsuya Kato, Yasumasa Monobe, Mitsuko Furuya, Yoshio Naomoto

Am J Case Rep. 2016; 17: 788–792. Published online 2016 Oct 26. doi: 10.12659/AJCR.899407

PMCID:: PMC5083040

Article PDF–955K

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