نتایج جستجو برای: med12 mutations

تعداد نتایج: 172942  

Journal: :Human Reproduction 2023

Abstract Study question To establish three-dimensional (3D) spheroid culture system of uterine leiomyoma (ULM) cells that responds to estrogen(E) and progesterone(P). Summary answer We established the 3D ULM cells, in which ULM-spheroid grows response progesterone. What is known already ULMs proliferate female hormones patients-derived xenograft model vivo. However, it controversial whether vit...

2017
Felipe C. Geyer Kathleen A. Burke Salvatore Piscuoglio Charlotte K. Y. Ng Anastasios D. Papanastasiou Caterina Marchiò Pier Selenica Marcia Edelweiss Melissa P. Murray Edi Brogi Robert A. Soslow Brian P. Rubin Larry Norton Jorge S. Reis‐Filho Britta Weigelt

Uterine adenosarcomas and breast phyllodes tumors (PTs) are morphologically similar, being composed of stromal projections in a leaf-like fashion lined by epithelial cells. Here, we investigated whether their histologic similarities would be mirrored at the genetic level. The previously reported repertoires of somatic genetic alterations found in 19 adenosarcomas and 22 PTs (six benign, six bor...

2013
Caitrín M. Coffey Patricia A. Solleveld Joyce Fang Antonia K. Roberts Sung-Kook Hong Igor B. Dawid Caroline E. Laverriere Eric Glasgow

BACKGROUND Fetal Alcohol Spectrum Disorders (FASD) are a collection of disorders resulting from fetal ethanol exposure, which causes a wide range of physical, neurological and behavioral deficits including heightened susceptibility for alcoholism and addictive disorders. While a number of mechanisms have been proposed for how ethanol exposure disrupts brain development, with selective groups of...

Journal: :hepatitis monthly 0
reza rezaee ministry of health and medical education, deputy of curative affairs, budget administration, tehran, ir iran mansour poorebrahim department of medical biotechnology, school of advanced technologies in medicine, tehran university of medical sciences, tehran, ir iran saeideh najafi department of microbiology, tonekabon branch, islamic azad university, tonekabon, mazandaran, ir iran solmaz sadeghi department of medical biotechnology, school of advanced technologies in medicine, tehran university of medical sciences, tehran, ir iran alieh pourdast department of infectious diseases, imam khomeini hospital complex, tehran university of medical sciences, tehran, ir iran seyed moayed alavian middle east liver diseases (meld) center, tehran, ir iran; baqiyatallah research center for gastroenterology and liver diseases, baqiyatallah university of medical sciences, tehran, ir iran

conclusions these data will be beneficial for designing more advanced antibodies for the recognition of the hbsag in diagnostics. in addition, the results of this study may assist in the design or development of more effective hepatitis b vaccines. results the g145r mutation causes a considerable reduction in the immunogenic activity of the hbsag through a conformational change in the hbsag ant...

2016
Elizabeth Margolskee Vaidehi Jobanputra Preti Jain Jinli Chen Karthik Ganapathi Odelia Nahum Brynn Levy Julie Morscio Vundavalli Murty Thomas Tousseyn Bachir Alobeid Mahesh Mansukhani Govind Bhagat

Post-transplant lymphoproliferative disorders of T- or NK-cell origin (T/NK-PTLD) are rare entities and their genetic basis is unclear. We performed targeted sequencing of 465 cancer-related genes and high-resolution copy number analysis in 17 T-PTLD and 2 NK-PTLD cases. Overall, 377 variants were detected, with an average of 20 variants per case. Mutations of epigenetic modifier genes (TET2, K...

2018
Xinjie Bao Xiangyi Kong Chengxian Yang Huanwen Wu Wenbin Ma Renzhi Wang

Malignant peripheral nerve sheath tumor (MPNST) is an uncommon neoplasm that rarely involves the head and neck region. Intracranial MPNSTs unrelated to cranial nerves are highly malignant tumors with poor overall survival, probably because of infiltrating growth into surrounding brain tissue. The pathogenesis of MPNST remains unclear. There are no conclusive explanations for the mechanisms unde...

2014
Akihiko Muto Shingo Ikeda Martha E. Lopez-Burks Yutaka Kikuchi Anne L. Calof Arthur D. Lander Thomas F. Schilling Gregory S. Barsh

Haploinsufficiency for Nipbl, a cohesin loading protein, causes Cornelia de Lange Syndrome (CdLS), the most common "cohesinopathy". It has been proposed that the effects of Nipbl-haploinsufficiency result from disruption of long-range communication between DNA elements. Here we use zebrafish and mouse models of CdLS to examine how transcriptional changes caused by Nipbl deficiency give rise to ...

2012
Yuri Imura Yasushi Kobayashi Sumiko Yamamoto Masahiko Furutani Masao Tasaka Mitsutomo Abe Takashi Araki

The proper timing of flowering is of crucial importance for reproductive success of plants. Regulation of flowering is orchestrated by inputs from both environmental and endogenous signals such as daylength, light quality, temperature and hormones, and key flowering regulators construct several parallel and interactive genetic pathways. This integrative regulatory network has been proposed to c...

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