نتائج البحث

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.

• Authors : Dalton, Hans M.¹ (AUTHOR); Young, Naomi J.¹ (AUTHOR); Berman, Alexys R.¹ (AUTHOR)

• Source: PLoS Genetics. 10/28/2024, Vol. 20 Issue 10, p1-26. 26p.

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Anorectal Malformations (ARM) and associated maternal factors among children at Tikur Anbessa Specialized Hospital and St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia: An unmatched case-control study.

• Authors : Solomon, Samrawit¹ (AUTHOR); Temesgen, Fisseha² (AUTHOR); Tibebu, Solomon³ (AUTHOR)

Subjects: *HUMAN abnormalities; *MATERNAL age; *UNPLANNED pregnancy

• Source: PLoS ONE. 9/20/2024, Vol. 19 Issue 9, p1-16. 16p.

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Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans.

• Authors : Yanagi, Katherine S.¹ (AUTHOR); Jochim, Briar¹ (AUTHOR); Kunjo, Sheikh Omar¹ (AUTHOR)

• Source: PLoS Biology. 7/11/2024, Vol. 22 Issue 7, p1-25. 25p.

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Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila.

• Authors : Fenckova, Michaela^1,2 (AUTHOR) ; Muha, Villo¹ (AUTHOR); Mariappa, Daniel¹ (AUTHOR)

• Source: PLoS Genetics. 5/2/2022, Vol. 18 Issue 5, p1-28. 28p.

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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

• Authors : Kuil, Laura E.¹ (AUTHOR); MacKenzie, Katherine C.¹ (AUTHOR); Tang, Clara S.^2,3 (AUTHOR)

• Source: PLoS Genetics. 8/6/2021, Vol. 17 Issue 8, p1-29. 29p.

تفاصيل العنوان

A conserved role for AMP-activated protein kinase in NGLY1 deficiency.

• Authors : Han, Seung Yeop¹ (AUTHOR); Pandey, Ashutosh¹ (AUTHOR); Moore, Tereza² (AUTHOR)

• Source: PLoS Genetics. 12/14/2020, Vol. 16 Issue 12, p1-25. 25p.

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Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.

• Authors : Serrano, Maria de los Angeles¹ (AUTHOR); Demarest, Bradley L.¹ (AUTHOR); Tone-Pah-Hote, Tarlynn² (AUTHOR)

• Source: PLoS Biology. 9/3/2019, Vol. 17 Issue 8, p1-39. 39p. 5 Color Photographs, 1 Black and White Photograph, 4 Diagrams.

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Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.

• Authors : Mansour, Tamer A.^1,2; Lucot, Katherine^1,3; Brown, C. Titus^1,4

• Source: PLoS Genetics. 12/6/2018, Vol. 14 Issue 12, p1-23. 23p.

تفاصيل العنوان

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

• Authors : Chan, Wing Lee^1,2,3; Steiner, Magdalena^1,4; Witkos, Tomasz⁵

• Source: PLoS Genetics. 3/21/2018, Vol. 14 Issue 3, p1-24. 24p.

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Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

• Authors : Hocking, Jennifer C.^1,2,3,4; Famulski, Jakub K.^3,5; Yoon, Kevin H.³

• Source: PLoS Genetics. 3/9/2018, Vol. 14 Issue 3, p1-28. 28p.

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