9 research outputs found
A moving balls approximation method for a class of smooth constrained minimization problems
International audienc
Prolonged survival in a patient with isolated skull recurrence of cervical carcinoma — Case report and review of the literature
A 58Â years old woman was diagnosed with squamous cell carcinoma of the uterine cervix FIGO stage IIB and was treated by concomitant radio-chemotherapy followed by simple hysterectomy. Several months later a single metastasis to the skull was diagnosed. The patient underwent craniotomy and radiotherapy and achieved a prolonged disease free survival of 20Â months.
Bone metastases from cervical carcinoma are usually part of widespread metastatic disease. Skull metastases are extremely rare. Selected cases of solitary bone metastases can be treated radically and achieve long term disease free survival
Synchronous and Asynchronous Blastomere Cleavage at Cryopreservation: Effect on Subsequent Embryo Survival, Pregnancy and Live Birth Rates
The mutual effect of pregestational body mass index, maternal hyperglycemia and gestational weight gain on adverse pregnancy outcomes
A globally linearly convergent method for pointwise quadratically supportable convex–concave saddle point problems
Block-iterative projection methods for parallel computation of solutions to convex feasibility problems
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
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48537.pdf (publisher's version ) (Closed access)Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1 encodes one of at least four functionally overlapping E3 ubiquitin ligases of the N-end rule pathway, a conserved proteolytic system whose substrates include proteins with destabilizing N-terminal residues. Pancreas of individuals with Johanson-Blizzard syndrome did not express UBR1 and had intrauterine-onset destructive pancreatitis. In addition, we found that Ubr1(-/-) mice, whose previously reported phenotypes include reduced weight and behavioral abnormalities, had an exocrine pancreatic insufficiency, with impaired stimulus-secretion coupling and increased susceptibility to pancreatic injury. Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway