PMC Articles for MedGen (Select 344288) - PMC

Mirte Scheper, Frederik N. F. Sørensen, Gabriele Ruffolo, Alessandro Gaeta, Lilian J. Lissner, Jasper J. Anink, Irina Korshunova, Floor E. Jansen, Kate Riney, Wim van Hecke, Angelika Mühlebner, Konstantin Khodosevich, Dirk Schubert, Eleonora Palma, James D. Mills, Eleonora Aronica

Acta Neuropathol. 2024; 147(1): 80. Published online 2024 May 7. doi: 10.1007/s00401-024-02737-7

PMCID:: PMC11076412

Article PDF–11M

Select item 110738764.

A Novel TSC2 c.2489T>C Missense Variant Associated With Tuberous Sclerosis Complex: Case Report

Yujie Lai, Yuanye Ma, Biao Luo, Yan Long

Neurol Genet. 2024 Apr; 10(2): e200127. Published online 2024 Feb 16. doi: 10.1212/NXG.0000000000200127

PMCID:: PMC11073876

Article PDF–205K

Select item 110029905.

Tuberous sclerosis complex associated lymphangioleiomyomatosis caused by de novo mutation of TSC2 gene in Vietnam: A case report

Dinh Van Luong, Le Ngoc Huy, Nguyen Xuan Giang, Nguyen Huu Hong Thu, Nguyen Hai Ha, Nguyen Huy Binh

Respirol Case Rep. 2024 Apr; 12(4): e01346. Published online 2024 Apr 9. doi: 10.1002/rcr2.1346

PMCID:: PMC11002990

Article PDF–37M

Select item 109903886.

Congenital single kidney in tuberous sclerosis complex (Bourneville disease)

Wafaa Bzeih, Mohammad Kbar, Oussama Rihan

Ann Med Surg (Lond) 2024 Apr; 86(4): 2158–2161. Published online 2024 Feb 20. doi: 10.1097/MS9.0000000000001834

PMCID:: PMC10990388

Article PDF–397K

Select item 109702817.

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions

Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari, Resham Ejaz, Robyn Whitney

Genes (Basel) 2024 Mar; 15(3): 332. Published online 2024 Mar 4. doi: 10.3390/genes15030332

PMCID:: PMC10970281

Article PDF–373K

Select item 109685308.

Contractile and Genetic Characterization of Cardiac Constructs Engineered from Human Induced Pluripotent Stem Cells: Modeling of Tuberous Sclerosis Complex and the Effects of Rapamycin

Veniamin Y. Sidorov, Tatiana N. Sidorova, Philip C. Samson, Ronald S. Reiserer, Clayton M. Britt, M. Diana Neely, Kevin C. Ess, John P. Wikswo

Bioengineering (Basel) 2024 Mar; 11(3): 234. Published online 2024 Feb 28. doi: 10.3390/bioengineering11030234

PMCID:: PMC10968530

Article PDF–8.9M

Select item 109666359.

Tuberous Sclerosis Complex as a Social Determinant of Health, Alongside Its Psychiatric Comorbidities: A Case Report

Hitesh P Rai, Cameron Sandefur

Cureus. 2024 Feb; 16(2): e54956. Published online 2024 Feb 26. doi: 10.7759/cureus.54956

PMCID:: PMC10966635

Article PDF–820K

Select item 1095863710.

A Woman with Bilateral Pheochromocytoma and Tuberous Sclerosis Complex

Maleeha Zahid, Shalini Koshy, Jawairia Shakil, Helmi S. Khadra, Luan D. Truong, Archana R. Sadhu

AACE Clin Case Rep. 2024 Mar-Apr; 10(2): 41–44. Published online 2023 Dec 8. doi: 10.1016/j.aace.2023.12.001

PMCID:: PMC10958637

Article PDF–2.2M

Select item 1095817511.

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

Seung Woo Ryu, Ji‐Hee Yoon, Dong‐wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Lee

Mol Genet Genomic Med. 2024 Mar; 12(3): e2330. Published online 2024 Jan 24. doi: 10.1002/mgg3.2330

PMCID:: PMC10958175

Article PDF–1.4M

Select item 1095287412.

Determining the neurocognitive profile of children with tuberous sclerosis complex within the Western Cape region of South Africa

N. M. Berghoff, J. M. Wilmshurst, T. A. Page, M. Wessels, B. Schlegel, S. Malcolm‐Smith

J Intellect Disabil Res. 2023 May; 67(5): 427–446. Published online 2023 Feb 14. doi: 10.1111/jir.13009

PMCID:: PMC10952874

Article PDF–412K

Select item 1094262913.

The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function

Lena H Nguyen, Youfen Xu, Maanasi Nair, Angelique Bordey

eLife. 2024; 12: RP91010. Published online 2024 Feb 27. doi: 10.7554/eLife.91010

PMCID:: PMC10942629

Article PDF–5.5M

Select item 1093028714.

1例以皮肤损害为首发症状的结节性硬化症并多学科讨论

邓思涵, 施为, 蔡燚, 唐勇军, 刘卫平, 尹乒, 陈晨, 孟莉, 董慧茜, 黄俊栋, 刘煜

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28; 47(7): 973–980. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210452

PMCID:: PMC10930287

Article PDF–1.1M

Select item 1092179915.

Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex

Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder, Hagen Sjard Bachmann

Orphanet J Rare Dis. 2024; 19: 106. Published online 2024 Mar 8. doi: 10.1186/s13023-024-03118-9

PMCID:: PMC10921799

Article PDF–898K

Select item 1092160616.

Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review

Qiaochu Sun, Jaeyoung Ryu, Young Kim

Diagn Pathol. 2024; 19: 50. Published online 2024 Mar 8. doi: 10.1186/s13000-024-01467-4

PMCID:: PMC10921606

Article PDF–2.3M

Select item 1091915017.

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Konomi Shimoda, Hiroyuki Iwasaki, Yoko Mizuno, Masafumi Seki, Masakazu Mimaki, Motohiro Kato, Aya Shinozaki-Ushiku, Harushi Mori, Seishi Ogawa, Masashi Mizuguchi

Front Pediatr. 2024; 12: 1333064. Published online 2024 Feb 21. doi: 10.3389/fped.2024.1333064

PMCID:: PMC10919150

Article PDF–4.5M

Select item 1091279118.

Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex

Linli Liu, Yanbo Wang, Zhengzhong Zhang, Chunshui Yu, Jin Chen

Mol Genet Genomic Med. 2024 Mar; 12(3): e2403. Published online 2024 Mar 4. doi: 10.1002/mgg3.2403

PMCID:: PMC10912791

Article PDF–2.8M

Select item 1091034419.

Clinical, tomographic and functional comparison of sporadic and tuberous sclerosis complex-associated forms of lymphangioleiomyomatosis: a retrospective cohort study

Martina Rodrigues Oliveira, Mark Wanderley, Carolina Salim Gonçalves Freitas, Ronaldo Adib Kairalla, Rodrigo Caruso Chate, Alexandre Franco Amaral, Fabio Eiji Arimura, Luciana Paula Samorano, Elieser Hitoshi Watanabe, Carlos Roberto Ribeiro Carvalho, Bruno Guedes Baldi

ERJ Open Res. 2024 Mar; 10(2): 00759-2023. Published online 2024 Mar 4. doi: 10.1183/23120541.00759-2023

PMCID:: PMC10910344

Article PDF–669K

Select item 1090192720.

Astroglial calcium signaling and homeostasis in tuberous sclerosis complex

Alessia Romagnolo, Giulia Dematteis, Mirte Scheper, Mark J. Luinenburg, Angelika Mühlebner, Wim Van Hecke, Marcello Manfredi, Veronica De Giorgis, Simone Reano, Nicoletta Filigheddu, Valeria Bortolotto, Laura Tapella, Jasper J. Anink, Liesbeth François, Stefanie Dedeurwaerdere, James D. Mills, Armando A. Genazzani, Dmitry Lim, Eleonora Aronica

Acta Neuropathol. 2024; 147(1): 48. Published online 2024 Feb 28. doi: 10.1007/s00401-024-02711-3