Results 21 to 30 of about 299,286 (332)

Sporadic Kindler Syndrome with a novel mutation [PDF]

Anais Brasileiros de Dermatologia, 2013
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous ...
Hiram Larangeira de Almeida Jr, Gláucia Thomas Heckler, Kenneth Fong, Joey Lai-Cheong, John McGrath   +4 more
doaj   +1 more source

Chlorella virus DNA ligase: Nick recognition and mutational analysis [PDF]

Nucleic Acids Research, 1998
Chlorella virus PBCV-1 DNA ligase seals nicked DNA substrates consisting of a 5'-phosphate-terminated strand and a 3'-hydroxyl-terminated strand annealed to a bridging DNA template strand. The enzyme discriminates at the DNA binding step between substrates containing a 5'-phosphate versus a 5'-hydroxyl at the nick.
V, Sriskanda, S, Shuman
openaire   +3 more sources

Identification of a novel motif in DNA ligases exemplified by DNA ligase IV [PDF]

, 2006
DNA ligase IV is an essential protein that functions in DNA non-homologous end-joining, the major mechanism that rejoins DNA double-strand breaks in mammalian cells. LIG4 syndrome represents a human disorder caused by mutations in DNA ligase IV that lead
Doherty, Aidan J, Jeggo, Penny, Marchetti, Caterina, Odreman, Federico, Vindigni, Alessandro, Walker, Sarah A   +5 more
core   +1 more source

Mutational analysis of the lambda int gene: DNA sequence of dominant mutations [PDF]

Journal of Bacteriology, 1987
We have combined techniques of genetic and physical mapping with rapid DNA sequence analysis to identify the nucleotide change in lambda int mutations. These mutations define two dominant phenotypic classes: (i) recombination that is partially independent of accessory factors, and (ii) inhibition of wild-type Int by missense or nonsense proteins, i.e.,
S E, Bear, J B, Clemens, L W, Enquist, R J, Zagursky   +3 more
openaire   +2 more sources

Network-based approaches elucidate differences within APOBEC and clock-like signatures in breast cancer

Genome Medicine, 2020
Background Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various ...
Yoo-Ah Kim, Damian Wojtowicz, Rebecca Sarto Basso, Itay Sason, Welles Robinson, Dorit S. Hochbaum, Mark D. M. Leiserson, Roded Sharan, Fabio Vadin, Teresa M. Przytycka   +9 more
doaj   +1 more source

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]

, 2014
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M, Bailey, P, Barbour, A, Bruxner, T, Campbell, P, Christ, A, Fink, J, Gotley, D, Grimmond, S, Harliwong, I, Hayward, N, Holmes, O, Hussey, D, Idrisoglu, S, Kazakoff, S, Krause, L, Lampe, G, Leonard, C, Loffler, K, Lord, R, Manning, S, Miller, D, Nancarrow, D, Newell, F, Nones, K, Nourbakhsh, E, Nourse, C, Patch, A, Pearson, J, Phillips, W, Quek, K, Quinn, M, Reid, L, Simpson, P, Smithers, B, Tang, Y, Waddell, N, Waddell, N, Watson, D, Wayte, N, Whiteman, D, Wilson, P, Wood, S, Xu, Q   +43 more
core   +4 more sources

Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5

Journal of Biochemical and Clinical Genetics, 2020
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various ...
Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez   +6 more
doaj   +1 more source

Persistent α-Fetoprotein Elevation in Healthy Adults and Mutational Analysis of α-Fetoprotein Promoter, Enhancer, and Silencer Regions

Gut and Liver, 2017
Background/Aimsα-Fetoprotein (AFP) is normally 1 year, and 20 controls with low AFP levels (
Yejoo Jeon, Yun Suk Choi, Eun Sun Jang, Jin Wook Kim, Sook-Hyang Jeong   +4 more
doaj   +1 more source

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]

, 2019
Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D, Kaur, Pushpinder, Lang, Julie E, Porras, Tania B, Ring, Alexander   +4 more
core   +3 more sources

KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer

Frontiers in Oncology, 2021
BackgroundWe previously reported that loss of KRAS mutations (“regressive” mutational trajectories) from primary tumors to metastases associated with the oligo-metastatic status in colorectal cancer (CRC).
Alessandro Ottaiano, Guglielmo Nasti, Mariachiara Santorsola, Vincenzo Altieri, Giuseppina Di Fruscio, Luisa Circelli, Amalia Luce, Amalia Luce, Alessia Maria Cossu, Alessia Maria Cossu, Giosuè Scognamiglio, Francesco Perri, Marco Correra, Andrea Belli, Paolo Delrio, Gerardo Botti, Michele Caraglia, Michele Caraglia   +17 more
doaj   +1 more source