Results 71 to 80 of about 1,537,452 (154)

[Constitutional mismatch repair deficiency syndrome]

, 2015
Contains fulltext : 154497.pdf (Publisher’s version ) (Open Access)BACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood.
Hoogerbrugge, N., Mensenkamp, A., Wesseling, P., Jongmans, M.C.J., Gidding, C.E.M., Loeffen, J.   +5 more
core  

Legius Syndrome and its Relationship with Neurofibromatosis Type 1

Acta Dermato-Venereologica, 2020
Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or ...
Ellen Denayer, Eric Legius
doaj   +1 more source

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors

Brain Pathology, EarlyView.
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar, Maysa Al‐Hussaini, Vani Santosh, Vaishali Suri, Sung‐Hye Park, Yue‐Shan Piao, Tarik Tihan, Ho‐Keung Ng, Michael Buckland, Rakesh Jalali, Yonehiro Kanemura, Pieter Wesseling, Takashi Komori   +12 more
wiley   +1 more source

A human cancer-associated truncation of MBD4 causes dominant negative impairment of DNA repair in colon cancer cells [PDF]

, 2007
MBD4 binds to methylated DNA and acts as a thymine DNA glycosylase in base excision repair. Deficiency of MBD4 in mice enhances mutation at CpG sites and alters apoptosis in response to DNA damage, but does not increase tumorigenesis in mismatch repair ...
Bader, S A, S A Bader, D J Harrison, M Walker, Harrison, D J, Walker, M   +5 more
core   +1 more source

Targeting KRAS for cancer therapy

British Journal of Pharmacology, EarlyView.
In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia, Ruonan Liu, Tonia A. Adamide, Isis E. Fernandez, Georgios T. Stathopoulos   +4 more
wiley   +1 more source

Ovarian sex cord stromal tumor and malignant mixed germ cell tumor in Constitutional Cancer Mismatch Repair Deficiency Syndrome

Pediatric Hematology Oncology Journal
Ovarian tumours in children may be associated with cancer predisposition syndromes. We report the case of a 10-year-old girl presenting with acute abdominal pain and hypovolemic shock.
Sarita Verma, Shailaja Mane, Bala Krushna Garud, Aniruddha Bhagwat, Mangesh Londhe, Kala Gnanasekaran Kiruthiga   +5 more
doaj   +1 more source

Institutional Ethnography of Teeth Whitening Industry: How Professional Power Becomes Commercial Power in Dentistry

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives This study aimed to demonstrate how power is exercised, and by whom, to expand the practice of teeth whitening in dentistry and the resultant consequences for the public. Methods Institutional ethnography (IE) conducted in England that included 100 h of observations at cosmetic dentistry conferences, training and treatments; five ...
Rizwana Lala, Peter G. Robinson, Barry J. Gibson   +2 more
wiley   +1 more source

Reimagining State Aid: Guiding Law and Policy Reform in a Changing World

European Law Journal, EarlyView.
ABSTRACT EU state aid law has shifted fundamentally from an originally purely repressive tool to a proactive steering mechanism for critical EU goals today. This paper argues that the current legal framework in Article 107 TFEU is gravely misaligned with this new function.
Thomas Jaeger
wiley   +1 more source

Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium

Endoscopy International Open, 2018
Background and study aims Constitutional mismatch repair deficiency (CMMRD) syndrome, also known as biallelic mismatch repair deficiency (BMMRD) syndrome is a rare autosomal-recessive genetic disorder that has a high mortality due to malignancy in ...
Y. Shimamura, C. M. Walsh, S. Cohen, M. Aronson, U. Tabori, P. P. Kortan, C. A. Durno   +6 more
doaj   +1 more source

Collective Bargaining in Germany: Trends and Challenges

Industrial Relations: A Journal of Economy and Society, EarlyView.
ABSTRACT This paper examines the evolution, institutional structure, and challenges of collective bargaining in Germany. Collective bargaining addresses labor market imperfections, redistributes productivity gains, and shapes working conditions. Germany's system centers on industry‐level agreements, complemented by firm‐level agreements and voluntary ...
Lutz Bellmann, Christian Dustmann, Bernd Fitzenberger   +2 more
wiley   +1 more source