PMC Articles for MedGen (Select 318593) - PMC

Links from MedGen

Items: 1 to 20 of 156

<< First< Prev

Page of 8

Next >Last >>

Select item 113990811.

Preclinical evaluation of tissue-selective gene therapies for congenital generalised lipodystrophy

Mansi Tiwari, Ahlima Roumane, Nadine Sommer, Weiping Han, Mirela Delibegović, Justin J. Rochford, George D. Mcilroy

Gene Ther. 2024; 31(9-10): 445–454. Published online 2024 Jul 28. doi: 10.1038/s41434-024-00471-z

PMCID:: PMC11399081

Article PDF–1.5M

Select item 113156182.

A Rare Case of Congenital Generalized Lipodystrophy

Shiji Chalipat, Om Prasanth Reddy Avuthu, P. Sindhura, Shailaja V Mane

Cureus. 2024 Jul; 16(7): e64276. Published online 2024 Jul 10. doi: 10.7759/cureus.64276

PMCID:: PMC11315618

Article PDF–1.8M

Select item 113146293.

Carbonized Ganoderma Lucidum/V₂O₃ Composites as a Superior Cathode for High-Performance Aqueous Zinc-Ion Batteries

Guilin Zeng, Zhengda Li, Shaohua Jiang, Wei Zhou

Molecules. 2024 Aug; 29(15): 3688. Published online 2024 Aug 4. doi: 10.3390/molecules29153688

PMCID:: PMC11314629

Article PDF–5.0M

Select item 112360844.

Identification of ibuprofen targeting CXCR family members to alleviate metabolic disturbance in lipodystrophy based on bioinformatics and in vivo experimental verification

Zhiwen Cao, Yuxiao Zhao, Ruixin Liu, Xialin Yan, Jiqiu Wang, Na Chen

Front Endocrinol (Lausanne) 2024; 15: 1414908. Published online 2024 Jun 26. doi: 10.3389/fendo.2024.1414908

PMCID:: PMC11236084

Article PDF–3.6M

Select item 110990495.

Impaired signaling pathways on Berardinelli–Seip congenital lipodystrophy macrophages during Leishmania infantum infection

Viviane Brito Nogueira, Carolina de Oliveira Mendes-Aguiar, Diego Gomes Teixeira, Francisco Paulo Freire-Neto, Leo Zenon Tassi, Leonardo Capistrano Ferreira, Mary Edythe Wilson, Josivan Gomes Lima, Selma Maria Bezerra Jeronimo

Sci Rep. 2024; 14: 11236. Published online 2024 May 16. doi: 10.1038/s41598-024-61663-6

PMCID:: PMC11099049

Article PDF–1.6M

Select item 110988646.

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy

Johannes Kopp, Leonard A. Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Erika Launay, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak

Hum Genet. 2024; 143(5): 683–694. Published online 2024 Apr 9. doi: 10.1007/s00439-024-02669-y

PMCID:: PMC11098864

Article PDF–6.2M

Select item 110519827.

Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans

Xiaofei Bai, Harold E. Smith, Andy Golden

Dis Model Mech. 2024 Jun 1; 17(6): dmm050524. Published online 2024 Apr 16. doi: 10.1242/dmm.050524

PMCID:: PMC11051982

Article

Select item 110216848.

Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2

Erika Bastos Lima Freire, Catarina Brasil d’Alva, Mayara Ponte Madeira, Grayce Ellen da Cruz Paiva Lima, Virginia Oliveira Fernandes, Lindenberg Barbosa Aguiar, Leonardo Barreira Portella, Renan Galvão Ozório, Clarisse Mourão Melo Ponte, Ana Paula Dias Rangel Montenegro, Renan Magalhães Montenegro Junior

Front Endocrinol (Lausanne) 2024; 15: 1326700. Published online 2024 Apr 3. doi: 10.3389/fendo.2024.1326700

PMCID:: PMC11021684

Article PDF–2.0M

Select item 109358649.

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa

Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel

Orphanet J Rare Dis. 2024; 19: 118. Published online 2024 Mar 13. doi: 10.1186/s13023-024-03084-2

PMCID:: PMC10935864

Article PDF–837K

Select item 1080116610.

Across-species benefits of adrenalectomy on congenital generalized lipoatrophic diabetes: a review

Patricio H. Contreras, Pilar Vigil

Front Endocrinol (Lausanne) 2023; 14: 1151873. Published online 2024 Jan 8. doi: 10.3389/fendo.2023.1151873

PMCID:: PMC10801166

Article PDF–3.3M

Select item 1075628511.

Lysophosphatidic acid triggers inflammation in the liver and white adipose tissue in rat models of 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 deficiency and overnutrition

Ikki Sakuma, Rafael C. Gaspar, Panu K. Luukkonen, Mario Kahn, Dongyan Zhang, Xuchen Zhang, Sue Murray, Jaya Prakash Golla, Daniel F. Vatner, Varman T. Samuel, Kitt Falk Petersen, Gerald I. Shulman

Proc Natl Acad Sci U S A. 2023 Dec 26; 120(52): e2312666120. Published online 2023 Dec 21. doi: 10.1073/pnas.2312666120

PMCID:: PMC10756285

Article PDF–9.3M

Select item 1073546812.

Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH–IGF-1 Axis

Marinna C Okawa, Rebecca M Tuska, Marissa Lightbourne, Brent S Abel, Mary Walter, Yuhai Dai, Elaine Cochran, Rebecca J Brown

J Clin Endocrinol Metab. 2024 Jan; 109(1): e96–e106. Published online 2023 Aug 18. doi: 10.1210/clinem/dgad491

PMCID:: PMC10735468

Article

Select item 1070456713.

Lipodystrophy for the Diabetologist—What to Look For

Nivedita Patni, Abhimanyu Garg

Curr Diab Rep. Author manuscript; available in PMC 2023 Dec 8.

Published in final edited form as: Curr Diab Rep. 2022 Sep; 22(9): 461–470. Published online 2022 Jul 11. doi: 10.1007/s11892-022-01485-w

PMCID:: PMC10704567

Article PDF–410K

Select item 1068744214.

Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

Antía Fernández-Pombo, Sofía Sánchez-Iglesias, Ana I. Castro-Pais, Maria José Ginzo-Villamayor, Silvia Cobelo-Gómez, Teresa Prado-Moraña, Everardo Josué Díaz-López, Felipe F. Casanueva, Lourdes Loidi, David Araújo-Vilar

Front Endocrinol (Lausanne) 2023; 14: 1250203. Published online 2023 Nov 16. doi: 10.3389/fendo.2023.1250203

PMCID:: PMC10687442

Article PDF–2.3M

Select item 1054254615.

Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in C. elegans

Xiaofei Bai, Harold E. Smith, Andy Golden

Version 1. bioRxiv. Preprint. 2023 Sep 24. doi: 10.1101/2023.09.22.559059

PMCID:: PMC10542546

Article

Select item 1051290916.

A subtype of laminopathies: Generalized lipodystrophy‐associated progeroid syndrome caused by LMNA gene c.29C>T mutation

Shipeng Huang, Yan Zhang, Zuan Zhan, Shuhao Gong

J Diabetes Investig. 2023 Oct; 14(10): 1221–1225. Published online 2023 Jul 13. doi: 10.1111/jdi.14055

PMCID:: PMC10512909

Article PDF–739K

Select item 1044855717.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Özbek

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 329–333. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2022.2022-1-25

PMCID:: PMC10448557

Article PDF–612K

Select item 1036905418.

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam

Front Endocrinol (Lausanne) 2023; 14: 1212729. Published online 2023 Jul 12. doi: 10.3389/fendo.2023.1212729

PMCID:: PMC10369054

Article PDF–1.3M

Select item 1028105319.

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report

Carolina Cecchetti, Elisabetta Belardinelli, Paola Dionese, Rita Teglia, Roberta Fazzeri, M. Rosaria D’ Apice, Amanda Vestito, Uberto Pagotto, Alessandra Gambineri

Front Endocrinol (Lausanne) 2023; 14: 1190363. Published online 2023 Jun 6. doi: 10.3389/fendo.2023.1190363

PMCID:: PMC10281053

Article PDF–1.5M

Select item 1019667420.

Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy

Abeer Qannan, Yosra Bejaoui, Mahmoud Izadi, Noha A Yousri, Aleem Razzaq, Colette Christiansen, George M Martin, Jordana T Bell, Steve Horvath, Junko Oshima, Andre Megarbane, Johan Ericsson, Ehsan Pourkarimi, Nady El Hajj

Hum Mol Genet. 2023 Jun 1; 32(11): 1826–1835. Published online 2023 Jan 28. doi: 10.1093/hmg/ddad016

PMCID:: PMC10196674

Article PDF–823K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 156

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity