In recent years a number of human diseases associated with dysregulated ribosome biogenesis have been identified and categorized as “ribosomopathies” [1]. Acquired or congenital genetic lesions leading to impaired ribosome biogenesis and function appear to be germane to this class of disorders that include Diamond-Blackfan anemia (DBA), a disorder characterized by pure red cell aplasia, Shwachm...

Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets-like metaphyseal changes but normal blood chemistry and moderate short stature. Its molecular basis and nosologic status remained unknown. We followed up on those individuals and diagnosed the disorder in an additional member of the family. We used ...

We have identified a cell cycle delay in Saccharomyces cerevisiae RNase MRP mutants. Mutants delay with large budded cells, dumbbell-shaped nuclei, and extended spindles characteristic of "exit from mitosis" mutants. In accord with this, a RNase MRP mutation can be suppressed by overexpressing the polo-like kinase CDC5 or by deleting the B-type cyclin CLB1, without restoring the MRP-dependent r...

In 1971, two human polyoma viruses, BK and JC, were isolated and named after the patients in whom they were first identified [1]. BK virus (BKV) was isolated from the urine of a kidney transplant patient and JC virus (JCV) from the brain of a patient with Hodgkin’s lymphoma and progressive multifocal leukencephalopathy. Primary infection with these DNA viruses occurs early in childhood and 70–8...

Vellus hair follicle Accessory auricle Trichofolliculoma Hair nevus Abstract We present a case of hair follicle nevus, a rare hamartoma composed of vellus hair follicles. Hair follicle nevus should be differentiated from accessory auricle, trichofolliculoma and hair nevus. Masahiro Tani, MD, Department of Dermatology, Kobe University School of Medicine, 5 Kusunoki-cho, 7 chome, Chuo-ku, Kobe 65...

Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome bioge...

In the present study tissue samples were collected from external nares, nasal cavity, nasopharynx and larynx of six healthy adult Black Bengal goat. The samples were routinely prepared for histological observation. The external nares, and nasopharynx were lined by stratified squamous epithelium, and nasal cavity was ciliated pseudostratified columnar epithelium. Numerous hair follicles were ide...

X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene defici...

Mutant animals in the skin and hair have been used to identify important genes in biomedical research. We describe a new mutant rat, sparse and wavy hair (swh), that spontaneously arose in a colony of inbred WTC rats. The mutant phenotype was characterized by sparse and wavy hair, which was most prominent at age 3-4 weeks, and was inherited in an autosomal recessive manner. The swh/swh rats sho...