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Additional file 2 of Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

Autor: Abudi-Sinreich, Shachar, Bodine, Steven P., Yokoyama, Tadafumi, Tolman, Nathanial J., Tyrlik, Michal, Testa, Lauren C., Han, Chen G., Dorward, Heidi M., Wincovitch, Stephen M., Anikster, Yair, Gahl, William A., Cinar, Resat, Gochuico, Bernadette R., Malicdan, May Christine V.

Additional file 2: Figure S2. RNA Scope mask parameters. Magnified images of blue (DAPI, left, 405 channel), green (TGF-β, center, 488 channel), and red (IL-1β, right, 555 channel) signals of bleomycin-challenged mouse lung tissue sections. Zen Blu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b290d808de477caf779efd770f05fa6

Severe Bleeding With Subclinical Oculocutaneous Albinism in a Patient With a Novel HPS6 Missense Variant

Autor: Han, Chen G., O'Brien, Kevin J., Coon, Lea M., Majerus, Julie A., Huryn, Laryssa A., Haroutunian, Sara G., Moka, Nagabhishek, Introne, Wendy J., Macnamara, Ellen, Gahl, William A., Malicdan, May Christine V., Chen, Dong, Krishnan, Koyamangalath, Gochuico, Bernadette R.

Publikováno v: ETSU Faculty Works.

Heřmanský–Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type

Externí odkaz: https://dc.etsu.edu/etsu-works/10173

A POLR3B -variant reveals a Pol III transcriptome response dependent on La protein/SSB.

Autor: Mattijssen S; Section on Molecular and Cell Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Kerkhofs K; Section on Molecular and Cell Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Stephen J; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Yang A; RNA Biology Laboratory, National Cancer Institute, Frederick, MD, 21702 USA., Han CG; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Tadafumi Y; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Iben JR; Molecular Genetics Core, NICHD, NIH, Bethesda, MD 20892, USA., Mishra S; Section on Molecular and Cell Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Sakhawala RM; Section on Molecular and Cell Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Ranjan A; Section on Molecular and Cell Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Gowda M; Department of Obstetrics & Gynaecology, Jawaharlal Institute of Post-Graduate Medical Education and Research, Puducherry, India., Gahl WA; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD 20892, USA., Gu S; RNA Biology Laboratory, National Cancer Institute, Frederick, MD, 21702 USA., Malicdan MC; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD 20892, USA., Maraia RJ; Section on Molecular and Cell Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Feb 05. Date of Electronic Publication: 2024 Feb 05.