نتائج البحث

Precision pharmacological reversal of strain-specific diet-induced metabolic syndrome in mice informed by epigenetic and transcriptional regulation.

• Authors : Wulfridge, Phillip; Davidovich, Adam; Salvador, Anna

Subjects: Humans; Mice; Animals

• Source: PLoS Genetics. 19(10)

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A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

• Authors : Guguin, Justine¹ (AUTHOR); Chen, Ting-Yu² (AUTHOR); Cuinat, Silvestre¹ (AUTHOR)

• Source: PLoS Genetics. 12/16/2024, Vol. 20 Issue 12, p1-22. 22p.

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Sex modifies the effect of genetic risk scores for polycystic ovary syndrome on metabolic phenotypes.

• Authors : Actkins, Ky'Era V.^1,2,3 (AUTHOR) ; Jean-Pierre, Genevieve^2,3 (AUTHOR); Aldrich, Melinda C.^3,4,5 (AUTHOR)

• Source: PLoS Genetics. 5/31/2023, Vol. 19 Issue 5, p1-17. 17p.

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Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones.

• Authors : Koppes, Erik A.¹ (AUTHOR); Johnson, Marie A.¹ (AUTHOR); Moresco, James J.² (AUTHOR)

• Source: PLoS Genetics. 4/17/2023, Vol. 18 Issue 4, p1-38. 38p.

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Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson–Forssman–Lehmann intellectual disability syndrome.

• Authors : McRae, Helen M.^1,2 (AUTHOR); Leong, Melody P. Y.^1,2 (AUTHOR); Bergamasco, Maria I.^1,2 (AUTHOR)

• Source: PLoS Genetics. 10/15/2024, Vol. 20 Issue 10, p1-35. 35p.

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Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.

• Authors : Gao, Christine W.^1,2 (AUTHOR); Lin, WanYing.¹ (AUTHOR); Riddle, Ryan C.^3,4,5 (AUTHOR)

• Source: PLoS Genetics. 6/10/2024, Vol. 20 Issue 6, p1-27. 27p.

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Single cell transcriptomics reveals dysregulated cellular and molecular networks in a fragile X syndrome model.

• Authors : Donnard, Elisa¹ (AUTHOR) ; Shu, Huan² (AUTHOR) ; Garber, Manuel^1,2,3 (AUTHOR)

• Source: PLoS Genetics. 6/8/2022, Vol. 18 Issue 6, p1-25. 25p.

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Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.

• Authors : Legrand, Anne^1,2 (AUTHOR); Guery, Charline¹ (AUTHOR); Faugeroux, Julie¹ (AUTHOR)

• Source: PLoS Genetics. 3/4/2022, Vol. 18 Issue 3, p1-29. 29p.

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The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.

• Authors : Nonarath, Hannah J. T.¹ (AUTHOR); Simpson, Samantha L.² (AUTHOR); Slobodianuk, Tricia L.¹ (AUTHOR)

• Source: PLoS Genetics. 3/11/2025, Vol. 21 Issue 3, p1-31. 31p.

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Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.

• Authors : Hao H; Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China.; Song L

Subjects: Wolfram Syndrome*/Wolfram Syndrome*/Wolfram Syndrome*/genetics; Humans ; Calcium/Calcium/Calcium/metabolism

• Source: PLoS genetics [PLoS Genet] 2023 Jul 03; Vol. 19 (7), pp. e1010827. Date of Electronic Publication: 2023 Jul 03 (Print Publication: 2023).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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