Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency.
İstanbul, Turkey. In Case Rep Pediatr, Dec 2013
Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID.
Uterine tumors resembling ovarian sex cord tumors.
Delhi, India. In Arch Pathol Lab Med, Dec 2013
Sex cord markers, such as inhibin, calretinin, CD99, WT1, and MART-1; epithelial markers, such as pancytokeratin and epithelial membrane antigen; smooth muscle markers, such as smooth muscle actin, desmin, and histone deacetylase 8; and miscellaneous markers, such as CD10, estrogen receptor, progesterone receptor, S100, and CD117, are often coexpressed.
Potent 19-norvitamin D analogs for prostate and liver cancer therapy.
Tokyo, Japan. In Future Med Chem, 2012
Among them, 2α- and 2β-(3-hydroxypropyl)-1α,25-dihydroxy-19-norvitamin D(3) (MART-10 and -11, respectively) and 14-epi-2α- and 14-epi-2β-(3-hydroxypropyl)-1α,25-dihydroxy-19-norvitamin D(3) (14-epi-MART-10 and 14-epi-MART-11, respectively) were found to be the most promising.
Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Islamabad, Pakistan. In Hum Hered, 2010
Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.