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Fibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice

• Authors : Hossain, Asm Sakhawat; Clarin, Maria Thea Rane Dela Cruz; Kimura, Kenichi

Subjects: Fibrillin-1/genetics; Animals; Mice

• Source: Hossain, A S, Clarin, M T R D C, Kimura, K, Biggin, G, Taga, Y, Uto, K, Yamagishi, A, Motoyama, E, Narenmandula, Mizuno, K, Nakamura, C, Asano, K, Ohtsuki, S, Nakamura, T, Kanki, S, Baldock, C, Raja,

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Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway

• Authors : Woods, Steven; Bates, Nicola; Cain, Stuart

• Source: Woods, S, Bates, N, Cain, S, Humphreys, P E A, Mancini, F E, Burgos, B A, Harley, P, Alqahtani, R A A, Mironov, A, Adamson, A, Donaldson, I J, Mortier, G, Chandler, K, Nicolaou, A, Baldock, C,

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Elevated mutation rates in multi-azole resistant Aspergillus fumigatus drive rapid evolution of antifungal resistance

• Authors : Bottery, Michael J; van Rhijn, Norman; Chown, Harry

Subjects: Aspergillus fumigatus/genetics; Azoles/pharmacology; Antifungal Agents/pharmacology

• Source: Bottery, M J, van Rhijn, N, Chown, H, Rhodes, J L, Celia-Sanchez, B N, Brewer, M T, Momany, M, Fisher, M C, Knight, C G & Bromley, M J 2024, 'Elevated mutation rates in

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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

• Authors : Stremenova Spegarova, Jarmila; Sinnappurajar, Praisoody; Al Julandani, Dalila

Subjects: Humans; Lupus Erythematosus; Systemic/genetics

• Source: Stremenova Spegarova, J, Sinnappurajar, P, Al Julandani, D, Navickas, R, Griffin, H, Ahuja, M, Grainger, A, Livingstone, K, Rice, G I, Sutherland, F, Hayes, C, Parke, S, Pang, L, Roderick, M R,

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SRSF2 mutation-induced CHD8 exon skipping represents a novel pathogenic mediator and therapeutic dependence in chronic myelomonocytic leukemia (CMML)

• Authors : Wang, Yu-Hung; Gurashi, Kristian; Guest, Laura

Subjects: alternative splicing; CMML; SRSF2

• Source: Wang, Y-H, Gurashi, K, Guest, L, Paredes, R, Rivera Rivera, C J, Nicosia, L, Sankar, S, Walter, D, Hart, C, Lachmann, S, Lin, W-H, Adamson, A, Batta, K & Wiseman, D 2025, 'SRSF2

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Game Changing Mutation

• Authors : Edhan, Omer; Hellman, Ziv

• Source: Edhan, O & Hellman, Z 2025, 'Game Changing Mutation', Royal Society Open Science, vol. 12, no. 4, pp. 1-36. https://doi.org/10.1101/2024.09.30.615800,

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Biomechanical and compositional basement membrane defects due to a Col4a1 mutation affect cardiac morphology and function

• Authors : Boland, Erin; Hoyle, Anna; Robertson-Gray, Olivia

Subjects: basement membrane; cardiac function; cardiomyopathy

• Source: Boland, E, Hoyle, A, Robertson-Gray, O, Fuller, W, Swift, J, Cantini, M, Walker, M, Huethorst, E, Macdonald, E, Loughrey, C, Salmeron-Sanchez, M, Smith, G L, Quondamatteo, F & van Agtmael, T 2025,

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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

• Authors : Zhu, Gaofeng; Badonyi, Mihaly; Franklin, Lina

Subjects: Humans; Antibodies/genetics; Gene Expression Regulation

• Source: Zhu, G, Badonyi, M, Franklin, L, Seabra, L, Rice, G I, Anne-Boland-Auge, Deleuze, J-F, El-Chehadeh, S, Anheim, M, de Saint-Martin, A, Pellegrini, S, Marsh, J A, Crow, Y J & El-Daher, M-T 2023, 'Type I

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Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

• Authors : Teekakirikul, Polakit; Zhu, Wenjuan; Xu, Xinxiu

Subjects: Animals; Heart Septal Defects; Atrial/genetics

• Source: Teekakirikul, P, Zhu, W, Xu, X, Young, C B, Tan, T, Smith, A M, Wang, C, Peterson, K A, Gabriel, G C, Ho, S, Sheng, Y, Moreau de Bellaing, A, Sonnenberg, D A, Lin, J-H, Fotiou, E, Tenin, G, Wang, M X,

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A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.

• Authors : Stables, J; Green, EK; Sehgal, A

Subjects: CSF1R; Kinase-dead; Leukoencephalopathy

• Source: Stables, J, Green, EK, Sehgal, A, Patkar, OL, Keshvari, S, Taylor, I, Ashcroft, ME, Grabert, K, Wollscheid-Lengeling, E, Szymkowiak, S, McColl, BW, Adamson, A, Muller, W & Hume, DA 2022, 'A

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