Results 71 to 80 of about 20,035 (219)
Frontiers in Genetics, 2015 RECQL1 and WRN helicases in the human RecQ helicase family participate in maintaining genome stability, DNA repair, replication and recombination pathways in the cell cycle.
Kazunobu eFutami, Yasuhiro eFuruichi
doaj +1 more source
Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
core +3 more sources
Diagnostic Cytopathology, EarlyView.ABSTRACT Hyalinizing clear cell carcinoma (HCCC) of the lung is an exceedingly rare salivary gland‐type neoplasm with limited cytomorphologic description. We report a case highlighting these features. A 3 mm incidental left‐airway lesion enlarged to 7 mm over 5 months, prompting radial endobronchial ultrasound (EBUS)‐guided transbronchial biopsy. Touch
Jeffrey Zijie Lin, Lucy Jager
wiley +1 more source
Thoracic Cancer, 2021 Targeted therapy has become the main treatment for non‐small cell lung cancer (NSCLC). Apatinib is a new antiangiogenic antitumor drug developed in China which targets vascular endothelial growth factor receptor‐2 (VEGFR‐2). We recently treated a 50‐year‐
Ruofei Yu +6 more
doaj +1 more source
WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family
Frontiers in Oncology, 2021 BackgroundFamilial cancers comprise a considerable distribution of colorectal cancers (CRCs), of which only about 5% occurs through well-established hereditary syndromes.
Mahnaz Norouzi +8 more
doaj +1 more source
Cellular location and activity of Escherichia coli RecG proteins shed light on the function of its structurally unresolved C-terminus [PDF]
, 2014 RecG is a DNA translocase encoded by most species of bacteria. The Escherichia coli protein targets branched DNA substrates and drives the unwinding and rewinding of DNA strands.
Abd Wahab +68 more
core +2 more sources
International Journal of Cancer, EarlyView.Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia +4 more
wiley +1 more source
BMC Genomics, 2010 Background Werner Syndrome (WS) is a rare disorder characterized by the premature onset of a number of age-related diseases. The gene responsible for WS encodes a DNA helicase/exonuclease protein believed to affect different aspects of transcription ...
Lebel Michel +4 more
doaj +1 more source
Do you know this syndrome? Werner syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 : Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice ...
Özlem Bilgiç
doaj +2 more sources
Allergy, EarlyView.ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
T. Zuberbier +221 more
wiley +1 more source