Lymphangioma of the fetal neck within the PIK3CA-Related-Overgrowth Spectrum (PROS): A case report.

Neck tumors are rare fetal conditions. They can receive their growth stimuli by activating missense mutations characterizing disorders with benign overgrowth, collectively known as PIK3CA-Related-Overgrowth-Spectrum. This results in segmental overgrowth with phenotypic variation, genetic heterogeneity or tissue specific distribution. Thus, clinical and molecular diagnosis as well as treatment remains challenging.

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Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfl051 ◽

2006 ◽

Vol 21 (6) ◽

pp. 1582-1587 ◽

Cited By ~ 6

Author(s):

Yoshio Shimizu ◽

Michio Nagata ◽

Joichi Usui ◽

Kouichi Hirayama ◽

Keigyo Yoh ◽

...

Keyword(s):

X Chromosome ◽

Phenotypic Variation ◽

Alport Syndrome ◽

X Chromosome Inactivation ◽

Chromosome Inactivation ◽

Tissue Specific ◽

Specific Distribution ◽

Alternatively Spliced

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The specific distribution pattern of IKZF1 mutation in acute myeloid leukemia

Journal of Hematology & Oncology ◽

10.1186/s13045-020-00972-5 ◽

2020 ◽

Vol 13 (1) ◽

Author(s):

Xiang Zhang ◽

Xuewu Zhang ◽

Xia Li ◽

Yunfei Lv ◽

Yanan Zhu ◽

...

Keyword(s):

Acute Myeloid Leukemia ◽

Myeloid Leukemia ◽

Fusion Gene ◽

Lymphoblastic Leukemia ◽

Genetic Alteration ◽

Missense Mutations ◽

Nonsense Mutations ◽

Specific Distribution ◽

Aggressive Clinical Course ◽

Acute Myeloid

Abstract IKZF1 belongs to the IKAROS family of transcription factors, and its deletion/mutation frequently affects acute lymphoblastic leukemia. In acute myeloid leukemia, IKZF1 deletion has been demonstrated recurrent, but whether IKZF1 mutation also exists in AML remained largely unknown. Herein, we analyzed the IKZF1 mutation in AML. In our cohort, the frequency of IKZF1 mutation was 2.6% (5/193), and 5 frameshift/nonsense mutations as well as 2 missense mutations were identified in total. Molecularly, IKZF1 mutation was absent in fusion gene-positive AML, but it was demonstrated as the significant concomitant genetic alteration with SF3B1 or bi-alleleCEBPA mutation in AML. Clinically, two IKZF1, PTPN11 and SF3B1-mutated AML patients exhibited one aggressive clinical course and showed primary resistant to chemotherapy. Furthermore, we confirmed the recurrent IKZF1 mutation in AML with cBioPortal tool from OHSU, TCGA and TARGET studies. Interestingly, OHSU study also showed that SF3B1 mutation was the significant concomitant genetic alteration with IKZF1 mutation, indicating their strong synergy in leukemogenesis. In conclusion, IKZF1 mutation recurrently affected AML.

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Tissue-specific distribution of cross-linked somatostatin receptor proteins in the rat

Biochemical Journal ◽

10.1042/bj2820339 ◽

1992 ◽

Vol 282 (2) ◽

pp. 339-344 ◽

Cited By ~ 3

Author(s):

C B Srikant ◽

K K Murthy ◽

Y C Patel

Keyword(s):

Exocrine Pancreas ◽

Receptor Protein ◽

Cross Linking ◽

Molecular Heterogeneity ◽

Dependent Manner ◽

Tissue Specific ◽

Receptor Proteins ◽

Specific Distribution ◽

A Minor ◽

The Brain

Pharmacological studies have suggested that the somatostatin (SS) receptor is heterogeneous and exhibits SS-14-and SS-28-selective subtypes. Whether such subtypes arise from molecular heterogeneity of the receptor protein has not been definitively established. Previous reports characterizing the molecular properties of the SS receptor by the cross-linking approach have yielded divergent size estimates ranging from 27 kDa to 200 kDa. In order to resolve this discrepancy, as well as to determine whether SS-14 and SS-28 interact with specific receptor proteins, we have cross-linked radioiodinated derivatives of [125I-Tyr11]SS-14 (T*-SS-14) and [Leu8,D-Trp22,125I-Tyr25]SS-28 (LTT*-SS-28) to membrane SS receptors in rat brain, pituitary, exocrine pancreas and adrenal cortex using a number of chemical and photoaffinity cross-linking agents. The labelled cross-linked receptor proteins were analysed by SDS/PAGE under reducing conditions followed by autoradiography. Our findings indicate that the pattern of specifically labelled cross-linked SS receptor proteins is sensitive to the concentration of chemical cross-linking agents such as disuccinimidyl suberate and dithiobis-(succinimidyl propionate). Labelled high-molecular-mass complexes of cross-linked receptor-ligand proteins were observed only when high concentrations of these cross-linkers were employed. Using optimized low concentrations of cross-linkers, however, two major labelled bands of 58 +/- 3 kDa and 27 +/- 2 kDa were detected. These two bands were identified as specifically labelled SS receptor proteins subsequent to cross-linking with a number of photoaffinity cross-linking agents as well. We demonstrate here that the 58 kDa protein is the major SS receptor protein in the rat pituitary, adrenal and exocrine pancreas, whereas the 27 kDa moiety represents the principal form in the brain. Additionally, the presence of a minor specifically labelled band of 32 kDa was detected uniquely in the brain, and a minor labelled protein of 42 kDa was observed in the pancreas. The labelling pattern obtained with LTT*-SS-28 was identical to that observed with T*-SS-14. Labelling of the 27 kDa band by either ligand was inhibited by SS-14 and SS-28 in a dose-dependent manner. Densitometric quantification showed that SS-14 exhibited greater than 2-fold greater potency than SS-28 for inhibiting the labelling of the 27 kDa species. These findings emphasize the need for careful interpretation of cross-linking data obtained for SS receptors, and provide evidence for molecular heterogeneity and for a tissue-specific distribution of the two principal SS receptor proteins.

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UPTAKE AND TISSUE-SPECIFIC DISTRIBUTION OF SELECTED POLYCHLORINATED BIPHENYLS IN DEVELOPING CHICKEN EMBRYOS

Environmental Toxicology and Chemistry ◽

10.1897/04-266r.1 ◽

2005 ◽

Vol 24 (3) ◽

pp. 597 ◽

Cited By ~ 18

Author(s):

Johan Maervoet ◽

Veerle Beck ◽

Simon A. Roelens ◽

Adrian Covaci ◽

Stefan Voorspoels ◽

...

Keyword(s):

Polychlorinated Biphenyls ◽

Tissue Specific ◽

Chicken Embryos ◽

Specific Distribution

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Tissue-specific Distribution of Genistein, Daidzein and Bisphenol A in Male Sprague-Dawley Rats after Intragastric Administration

Food Science and Technology Research ◽

10.3136/fstr.11.187 ◽

2005 ◽

Vol 11 (2) ◽

pp. 187-193 ◽

Cited By ~ 1

Author(s):

Shin YASUDA ◽

Po-Sheng WU ◽

Masaaki OKABE ◽

Hirofumi TACHIBANA ◽

Koji YAMADA

Keyword(s):

Bisphenol A ◽

Intragastric Administration ◽

Sprague Dawley ◽

Tissue Specific ◽

Specific Distribution ◽

Sprague Dawley Rats

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Hard wiring of normal tissue-specific chromosome-wide gene expression levels is an additional factor driving cancer type-specific aneuploidies

Genome Medicine ◽

10.1186/s13073-021-00905-y ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Sushant Patkar ◽

Kerstin Heselmeyer-Haddad ◽

Noam Auslander ◽

Daniela Hirsch ◽

Jordi Camps ◽

...

Keyword(s):

Gene Expression ◽

Normal Tissue ◽

Cancer Type ◽

Tissue Specific ◽

Expression Levels ◽

Specific Distribution ◽

Tumor Origin ◽

Chromosome Arm ◽

Gains And Losses ◽

Gene Expression Levels

Abstract Background Many carcinomas have recurrent chromosomal aneuploidies specific to the tissue of tumor origin. The reason for this specificity is not completely understood. Methods In this study, we looked at the frequency of chromosomal arm gains and losses in different cancer types from the The Cancer Genome Atlas (TCGA) and compared them to the mean gene expression of each chromosome arm in corresponding normal tissues of origin from the Genotype-Tissue Expression (GTEx) database, in addition to the distribution of tissue-specific oncogenes and tumor suppressors on different chromosome arms. Results This analysis revealed a complex picture of factors driving tumor karyotype evolution in which some recurrent chromosomal copy number reflect the chromosome arm-wide gene expression levels of the their normal tissue of tumor origin. Conclusions We conclude that the cancer type-specific distribution of chromosomal arm gains and losses is potentially “hardwiring” gene expression levels characteristic of the normal tissue of tumor origin, in addition to broadly modulating the expression of tissue-specific tumor driver genes.

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Effect of Copper On Bioconcentration of Benzotriazole Ultraviolet Stabilizers (BUVSs) in Common Carp (Cyprinus Carpio)

10.21203/rs.3.rs-945565/v1 ◽

2021 ◽

Author(s):

Dandan Zhao ◽

Tadiyose Girma Bekele ◽

Hongxia Zhao

Keyword(s):

Common Carp ◽

Distribution Patterns ◽

Ecological Effect ◽

Tissue Specific ◽

Treatment Groups ◽

Specific Distribution ◽

Muscle Tissues ◽

Effect Of Copper ◽

Depuration Rate ◽

Kinetics Of

Abstract Benzotriazole ultraviolet stabilizers (BUVSs) have received increasing attention due to their widespread usage, ubiquitous detection and their adverse ecological effect. However, information about the bioaccumulation potential of BUVSs and their joint exposure with heavy metals remains scarce. In this study, we investigated the bioaccumulation kinetics of 6 frequently reported BUVSs in common carp under different Cu concentration for 48 d, and their tissue-specific distribution patterns (liver, kidney, gill, and muscle tissues) were also evaluated. The bioconcentration factors (BCFs) and half-lives (t1/2) in the tissues ranged from 5.73 (UV-PS) to 1076 (UV-327), and 2.19 (UV-PS) to 31.5 (UV-320) days, respectively. The tissue-specific concentration and BCF values followed the order of liver > kidney > gill > muscle with or without Cu exposure. An increase in BCF with rising Cu concentration was observed, which is caused by the decreased depuration rate (k2) in more than half of treatment groups. These results indicated that BUVSs accumulated in fish and provides important insight into the risk assessment of this group of chemicals.

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