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About 328 results

ALLMedicine™ Bloom Syndrome Center

Research & Reviews  111 results

Genomic characterization of lymphomas in patients with inborn errors of immunity.
https://doi.org/10.1182/bloodadvances.2021006654
Blood Advances; Ye X, Maglione PJ et. al.

Jun 11th, 2022 - Patients with inborn errors of immunity (IEI) have a higher risk of developing cancer, especially lymphoma. However, the molecular basis for IEI-related lymphoma is complex and remains elusive. Here, we perform an in-depth analysis of lymphoma gen...

Bloom helicase mediates formation of large single-stranded DNA loops during DNA end pro...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9042962
Nature Communications; Xue C, Salunkhe SJ et. al.

Apr 28th, 2022 - Bloom syndrome (BS) is associated with a profoundly increased cancer risk and is caused by mutations in the Bloom helicase (BLM). BLM is involved in the nucleolytic processing of the ends of DNA double-strand breaks (DSBs), to yield long 3' ssDNA ...

Age of first cancer diagnosis and survival in Bloom syndrome.
https://doi.org/10.1016/j.gim.2022.03.008
Genetics in Medicine : Official Journal of the American C... Sugrañes TA, Flanagan M et. al.

Apr 15th, 2022 - This study aimed to describe the spectrum of cancers observed in Bloom Syndrome and the observed survival and age of first cancer diagnosis in Bloom syndrome as these are not well-defined. Data from the Bloom Syndrome Registry (BSR) was used for t...

ASO Visual Abstract: High Expression of Bloom Syndrome Helicase is a Key Factor for Poo...
https://doi.org/10.1245/s10434-022-11561-w
Annals of Surgical Oncology; Lan C, Yamashita YI et. al.

Mar 24th, 2022 - ASO Visual Abstract: High Expression of Bloom Syndrome Helicase is a Key Factor for Poor Prognosis and Advanced Malignancy in Patients with Pancreatic Cancer: A Retrospective Study.|2022|Lan C,Yamashita YI,Hayashi H,Nakagawa S,Imai K,|pathology,

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News  20 results

Enterprising Approaches
https://www.onclive.com/view/enterprising-approaches

Dec 5th, 2020 - OncLive Chairman, Mike Hennessy Separating hype from hope has often been problematic when developments that may lead to advances in the oncology field enter the public domain. The mapping of the human genome and the ability to characterize mut...

Tests reveal risk of passing on SCD, other diseases
https://www.mdedge.com/hematology-oncology/article/185547/anemia/tests-reveal-risk-passing-scd-other-diseases
HT Staff

Jul 24th, 2017 - Photo by Graham Colm Blood samples Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their risk of passing on heritable disorders to their offspring. The QHerit.

FDA OKs First Direct-to-Consumer Genetic Risk Tests
https://www.medscape.com/viewarticle/878287

Apr 6th, 2017 - In the latest step toward personalized medicine, the US Food and Drug Administration (FDA) today approved the first direct-to-consumer (DTC) genetic tests that provide information on a person's risk of developing a disease. The tests in question, ...

Pediatric Photosensitivity Disorders
https://www.mdedge.com/dermatology/article/110450/pediatric-photosensitivity-disorders
Swetha N. Pathak, MD, Jacqueline De Luca, MD

Jul 19th, 2016 - Review the PDF of the fact sheet on pediatric photosensitivity disorders with board-relevant, easy-to-review material. This month's fact sheet will review important disorders in the pediatric population where photosensitivity is a major feature Pr.

Enterprising Approaches
https://www.onclive.com/publications/oncology-live/2016/vol-17-no-4/enterprising-approaches

Feb 15th, 2016 - OncLive Chairman, Mike Hennessy Separating hype from hope has often been problematic when developments that may lead to advances in the oncology field enter the public domain. The mapping of the human genome and the ability to characterize mutatio...

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