Search results for "Translocation"

Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management

2013

Dermatofibrosarcoma protuberans (DFSP) is a rare superficial tumor characterized by high rates of local recurrence and low risk of metastasis. DFSP occurs most commonly on the trunk and proximal extremities, affects all races, and often develops between the second and fifth decade of life. The tumor grows slowly, typically over years. Histologically, several variants of DFSP have been described and should be well characterized to avoid misdiagnosis with other tumors. These include pigmented (Bednar tumor), myxoid, myoid, granular cell, sclerotic, atrophic DFSP, giant cell fibroblastoma, and DFSP with fibrosarcomatous areas. Of all these variants, only the DFSP with fibrosarcomatous areas is…

Inherited semisterility for control of harmful insects. II. Degree of sterility and types of translocations in the mosquito Culex pipiens L.

1971

Fur die Anwendung von Semisterilitat infolge von Translokationen zur Bekampfung schadlicher Insekten ist der Grad der Semisterilitat und die Art der zugrundeliegenden Translokation von Bedeutung. Von den bisher untersuchten 124 Translokationen hatten 101 einen Sterilitatsgrad zwischen 10 und 50%, 23 uber 50 bis zu 85%. Mit dem mannlichen Geschlechtsfaktor M gekoppelte Translokationen sind zur Zeit die fur die Praxis am nutzlichsten. Sie treten nicht so haufig auf als erwartet, machen aber doch rund 1/4 aller getesteten Translokationen aus. Es werden Grunde angefuhrt, weshalb M-gekoppelte Translokationen nutzlicher sind.

Inherited semisterility for control of harmful insects. V. Translocations in Culex tritaenio-rhynchus.

1972

Mit unterschiedlichen Dosen von Rontgenstrahlen wurden bei der StechmuckeCulex tritaeniorhynchus chromosomale Aberrationen (vorwiegend reziproke Translokationen) produziert, die von der zweiten Tochtergeneration an einen konstanten Grad von Semisterilitat zeigen. Die Mehrzahl der isolierten Linien zeigte im Durchschnitt eine Letalitat von etwa 50%. Die Variationsbreite innerhalb einer Linie betrug ±10–15%. Durch cytologische Untersuchungen von Prophasechromosomen wurden die geschlechtsbestimmenden Faktoren M und m auf einem der beiden langen Chromosomen lokalisiert.

Reduction of tumor necrosis factor-alpha (TNF-α) related nuclear factor-kappaB (NF-κB) translocation but not inhibitor kappa-B (Iκ-B)-degradation by …

2002

Degradation of inhibitor kappa-B (Ikappa-B) followed by translocation of nuclear factor-kappaB (NF-kappaB) into the nucleus and activation of gene expression is essential in tumor necrosis factor-alpha (TNF-alpha)-signaling. In order to analyze the role of Rho proteins in TNF-alpha-induced NF-kappaB-activation in human umbilical cord vein endothelial cells (HUVEC) we used Clostridium difficile toxin B-10463 (TcdB-10463) which inactivates RhoA/Rac1/Cdc42 by glucosylation and Clostridium botulinum C3-toxin which inhibits RhoA/B/C by ADP-ribosylation. Exposure of HUVEC to 10 ng/mL TcdB-10463 or 2.5 microg/mL C3-toxin inhibited TNF-alpha (100 ng/mL)-induced expression of a NF-kappaB-dependent r…

Mitochondrial complex I: new insights from inhibitor assays

2000

The NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain is by far the most complicated of the proton-translocating enzymes involved in the oxidative phosphorylation. Many clues regarding both electron transfer and proton translocation are still unknown. In this sense, inhibitor assays are relevant and useful pieces for elaborating a suitable model to explain the elusive bioenergetic mechanism of this enzyme. This short review presents the most recent advances in inhibitor studies and highlights the major controversies.

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

2019

Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised. We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization…

Partial trisomy 9p and partial monosomy 6q resulting from paternal reciprocal translocation 6;9: Overlapping manifestations of characteristic phenoty…

2003

We report on a female infant with partial trisomy 9p (p13.3→pter) and monosomy 6q (q26-qter) resulting from a paternal balanced reciprocal traslocation t(6;9)(q26;p13.3). Both trisomy 9p and monosomy 6q are recognized phenotypes with characteristic patterns of anomalies. This patient is the first reported with a partial deletion 6q and a partial duplication 9p resulting in an overlapping phenotype including intrauterine growth retardation (IUGR), craniofacial and skeletal abnormalities, congenital heart defect, hypotonia and developmental delay. We present the clinical follow-up of this patient from birth to age 4 years: the phenotypic manifestations of trisomy 9p syndrome are mildly expres…

High frequency of t(14;18) translocation in Sjögren's syndrome: Comment on the article by Gellrich et al

2000

Arginine deficiency leads to impaired cofilin dephosphorylation in activated human T lymphocytes

2012

The amino acid arginine is fundamentally involved in the regulation of the immune response during infection, inflammatory diseases and tumor growth. Arginine deficiency (e.g. due to the myeloid cell enzyme arginase) inhibits proliferation and effector functions of activated T lymphocytes. Here, we studied intracellular mechanisms mediating this suppression of human T lymphocytes. Our proteomic analysis revealed an impaired dephosphorylation of the actin-binding protein cofilin upon T-cell activation in the absence of arginine. We show that this correlates with alteration of actin polymerization and impaired accumulation of CD2 and CD3 in the evolving immunological synapse in T cell-antigen …

Near-Haploidy in a Malignant Sacrococcygeal Teratoma

1999

Cytogenetic analysis of a malignant sacrococcygeal teratoma in an adult patient revealed near-haploid (77%), near-diploid (19%), and polyploid (4%) cells. The near-haploid cells had a karyotype of 25,XX,der(5)t(5;7)(p15;p13),+7,der(9)t(6;9)(p21;q34),r(17)(p13q25) . In the near-diploid and polyploid cells identical copies of the structural chromosomal changes were found. Although some of the anomalies observed appear unique to this case, a common breakpoint in chromosome 6 was previously reported as specific in a subgroup of extragonadal germ cell tumors of adults.