Results 181 to 190 of about 2,026,261 (344)

O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Genetics in Medicine Open
Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli   +11 more
doaj   +1 more source

The human genome and medicine

Anales de Pediatría (English Edition), 2018
Francesc Palau, Alfredo García-Alix
openaire   +3 more sources

Genomes of evolutionarily divergent members of the human T-cell leukemia virus family (HTLV-I and HTLV-II) are highly conserved, especially in pX.

, 1984
Gary M. Shaw, Matthew A. Gonda, Gail Flickinger, Beatrice H. Hahn, Robert C. Gallo, Flossie Wong‐Staal   +5 more
openalex   +1 more source

A frameshift mutation in the pre-S region of the human hepatitis B virus genome allows production of surface antigen particles but eliminates binding to polymerized albumin. [PDF]

, 1985
David H. Persing, Harold Varmus, Don Ganem   +2 more
openalex   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation

Genetics in Medicine Open
Jennifer Sloan, Camryn Hall, Irini Manoli, Charles Venditti   +3 more
doaj   +1 more source

The quest for a complete understanding of the human genome. [PDF]

Genome Med
Abou Tayoun A, Ali H, Mokrab Y.
europepmc   +1 more source

The Major Components of the Mouse and Human Genomes [PDF]

, 1981
Philippe Soriano, Gabriel Macaya, Giorgio Bernardi   +2 more
openalex   +1 more source

Reduced vascular leakage correlates with breast carcinoma T regulatory cell infiltration but not with metastatic propensity

Molecular Oncology, EarlyView.
A mouse model for vascular normalization and a human breast cancer cohort were studied to understand the relationship between vascular leakage and tumor immune suppression. For this, endothelial and immune cell RNAseq, staining for vascular function, and immune cell profiling were employed.
Liqun He, Chiara Testini, Neda Hekmati, Altea Bonello, Aglaia Schiza, Emmanuel Nwadozi, Mia Phillipson, Carina Strell, Michael Welsh   +8 more
wiley   +1 more source

The origin of mirror repeats in the human genome. [PDF]

Nucleic Acids Res
McGinty R, Lyskova A, Mirkin SM.
europepmc   +1 more source