Results 111 to 120 of about 11,509,666 (312)

P035: Estimating the carrier frequency and prevalence of inborn errors of propionate and cobalamin metabolism using population databases

Genetics in Medicine Open, 2023
Jennifer Sloan, Irini Manoli, Charles Venditti   +2 more
doaj   +1 more source

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet Journal of Rare Diseases, 2019
Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico   +11 more
doaj   +1 more source

A human gut bacterial genome and culture collection for improved metagenomic analyses

Nature Biotechnology, 2019
Understanding gut microbiome functions requires cultivated bacteria for experimental validation and reference bacterial genome sequences to interpret metagenome datasets and guide functional analyses.
S. Forster, S. Forster, Nitin Kumar, Blessing O. Anonye, Alexandre Almeida, Elisa Viciani, Mark D. Stares, M. Dunn, T. Mkandawire, Ana Zhu, Y. Shao, Lindsay J. Pike, T. Louie, H. Browne, Alex L. Mitchell, B. Neville, R. Finn, T. Lawley   +17 more
semanticscholar   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype

Journal of Rare Diseases
Introduction Wilms tumor 1 (WT1)-related disorders are a group of hereditary disorders caused by alterations in the WT1 gene. WT1 expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen.
Heba A. Hassan, Inas Mazen, Mona K. Mekkawy, Aya Elaidy, Alaa Kamel, Mona L. Essawi   +5 more
doaj   +1 more source

The International Genome Sample Resource (IGSR) collection of open human genomic variation resources

Nucleic Acids Res., 2019
To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established.
S. Fairley, Ernesto Lowy-Gallego, Emily Perry, Paul Flicek   +3 more
semanticscholar   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

Molecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source

MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells

Epigenetics & Chromatin, 2019
Background The MAPK/ERK signaling pathway is an essential regulator of numerous cell processes that are crucial for normal development as well as cancer progression.
Temesgen D. Fufa, Laura L. Baxter, Julia C. Wedel, Derek E. Gildea, NISC Comparative Sequencing Program, Stacie K. Loftus, William J. Pavan   +6 more
doaj   +1 more source

The Cancer Genome Atlas (TCGA): an immeasurable source of knowledge

Contemporary oncology, 2015
The Cancer Genome Atlas (TCGA) is a public funded project that aims to catalogue and discover major cancer-causing genomic alterations to create a comprehensive “atlas” of cancer genomic profiles.
Katarzyna Tomczak, Patrycja Czerwińska, M. Wiznerowicz   +2 more
semanticscholar   +1 more source

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source