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Uterine cervix adenocarcinoma with both human papillomavirus type 18 and tumor suppressor gene p53 mutation from a woman having an intact hymen.

Human papillomavirus (HPV) type 18 DNA was found in an aggressively invasive adenocarcinoma tumor from a woman who had an intact hymen and denied any prior sexual intercourse. The viral DNA was detected within the tumor tissue by polymerase chain…

The BRAF mutation in MLH1-deficient colorectal cancer.

Tags: *Mutation, 2013, Adaptor Proteins, Clinical advances in hematology & oncology : H&O, Colorectal Neoplasms/drug therapy/*genetics/*metabolism, DNA Mismatch Repair, Genetic Association Studies, Humans, Mahesh Sameer A, MutL Protein Homolog 1, Nuclear Proteins/*deficiency, Prognosis, Proto-Oncogene Proteins B-raf/*genetics, Research Design, Signal Transducing/*deficiency, Treatment Outcome

Surface Enhanced Raman Spectroscopy (SERS) for the Multiplex Detection of Braf, Kras, and Pik3ca Mutations in Plasma of Colorectal Cancer Patients.

In this paper, we discuss the use of a procedure based on polymerase chain reaction (PCR) and surface enhanced Raman spectroscopy (SERS) (PCR-SERS) to detect DNA mutations. Methods: This method was implemented by first amplifying

Mutation in Osteoactivin Promotes Receptor Activator of NFkappaB Ligand (RANKL)-mediated Osteoclast Differentiation and Survival but Inhibits Osteoclast Function.

We previously reported on the importance of osteoactivin (OA/Gpnmb) in osteogenesis. In this study, we examined the role of OA in osteoclastogenesis, using mice with a nonsense mutation in the Gpnmb gene (D2J) and wild-type controls (D2J/Gpnmb(+)).…

Exome sequence identified a c.320A \textgreater G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.

Congenital Disorders of Glycosylation (CDG) are new and rapidly expanding neurometabolic disorders with multisystem involvements, broad phenotypic manifestations, and variable severity. The majority results from a defect of one of the steps involved…

Congenital anomaly of the inferior vena cava and factor V Leiden mutation predisposing to deep vein thrombosis.

A previously healthy 21-year-old man presented with back pain, bilateral extremity pain, and right lower extremity weakness, paresthesias, and swelling. Sonographic examination revealed diffuse deep vein thrombosis (DVT) in the femoral and popliteal…

Tags: *Mutation, 2014, Activated Protein C Resistance/*complications/diagnosis/drug therapy/genetics, Anticoagulants – Therapeutic Use, Anticoagulants/therapeutic use, Blood Coagulation Factors, deep vein thrombosis (DVT), Disease Susceptibility, DNA Mutational Analysis, Erickson Cameron R, Factor V/*genetics, Genetic Predisposition to Disease, Hematologic Diseases, Hematologic Diseases – Complications, Hematologic Diseases – Diagnosis, Hematologic Diseases – Drug Therapy, Human, Humans, Inferior – Abnormalities, Inferior – Radiography, Inferior – Ultrasonography, inferior vena cava (IVC), Inferior/*abnormalities/diagnostic imaging, Kulthia Arun, Lamparello Brooke M, lower extremities, Male, Mutation, Phlebography – Methods, Phlebography/methods, Predictive Value of Tests, Risk Factors, Sequence Analysis, Thet Zeyar, thrombophilic, Tomography, Ultrasonography, Vascular Health and Risk Management, Vascular Malformations – Complications, Vascular Malformations – Diagnosis, Vascular Malformations/*complications/diagnosis, Vena Cava, venography, Venous Thrombosis, Venous Thrombosis – Diagnosis, Venous Thrombosis – Drug Therapy, Venous Thrombosis – Etiology, Venous Thrombosis/diagnosis/drug therapy/*etiology/genetics, Virparia Vasudev, X-Ray Computed, Young Adult

Auditory nerve fiber differences in the normal and neurofilament deficient Japanese quail.

A primary axonal disease affecting the central and peripheral nervous system was discovered in a mutant strain of the Japanese quail, named quiver (Quv). We have previously demonstrated altered auditory evoked potentials in the neurofilament (NF)…

Tags: *Mutation, 2001, Animals, Auditory, Axons/ultrastructure, Brain Stem, Cochlear Nerve/*pathology/*physiopathology, Coturnix/genetics, Electron, Evoked Potentials, Hearing research, Kaga K, Microscopy, Mizutani M, Myelin Sheath/ultrastructure, Nerve Fibers/pathology/physiology, Neurofilament Proteins/*deficiency/*genetics, Sheykholeslami K

A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.

We have analyzed reticulocyte and leukocyte mRNAs isolated from a patient with congenital methemoglobinemia and pseudohermaphrodism. The cytochrome b5 cDNA sequences were amplified using specific oligonucleotide primers and the polymerase chain…

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