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About 453 results

ALLMedicine™ Bloom Syndrome Center

Research & Reviews  211 results

Inherited skin disorders presenting with poikiloderma.
https://doi.org/10.1111/ijd.15498
International Journal of Dermatology; Rayinda T, van Steensel M et. al.

Mar 19th, 2021 - Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikilo...

The Bloom syndrome complex senses RPA-coated single-stranded DNA to restart stalled rep...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838300
Nature Communications; Shorrocks AK, Jones SE et. al.

Jan 27th, 2021 - The Bloom syndrome helicase BLM interacts with topoisomerase IIIα (TOP3A), RMI1 and RMI2 to form the BTR complex, which dissolves double Holliday junctions to produce non-crossover homologous recombination (HR) products. BLM also promotes DNA-end ...

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7776606
Proceedings of the National Academy of Sciences of the Un... Bononi A, Goto K et. al.

Dec 15th, 2020 - Rare biallelic BLM gene mutations cause Bloom syndrome. Whether BLM heterozygous germline mutations (BLM +/-) cause human cancer remains unclear. We sequenced the germline DNA of 155 mesothelioma patients (33 familial and 122 sporadic). We found 2...

Multidisciplinary management of endocrinopathies and treatment-related toxicities in pa...
https://doi.org/10.1002/pbc.28815
Pediatric Blood & Cancer REFERENCES; Fein Levy C, Presswala LS et. al.

Nov 23rd, 2020 - The treatment of malignancy in cancer predisposition syndromes that also confer exquisite sensitivity to standard chemotherapy and radiation regimens remains a challenge. Bloom syndrome is one such disorder that is caused by a defect in DNA repair...

Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.
https://doi.org/10.1007/s10689-020-00221-1 10.1038/s41572-019-0113-0 10.1159/000452082 10.1200/JCO.2009.21.9972 10.1038/ng0298-184 10.4172/2157-7412.1000177 10.1002/pbc.26433 10.1016/j.ejmg.2017.10.010 10.1002/humu.20501 10.1038/srep14060 10.1097/PAS.0000000000000938 10.1038/s41379-018-0118-3 10.1038/s41571-018-0113-0
Familial Cancer; Huson SM, Staab T et. al.

Nov 21st, 2020 - Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (...

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Clinicaltrials.gov  227 results

Inherited skin disorders presenting with poikiloderma.
https://doi.org/10.1111/ijd.15498
International Journal of Dermatology; Rayinda T, van Steensel M et. al.

Mar 19th, 2021 - Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikilo...

The Bloom syndrome complex senses RPA-coated single-stranded DNA to restart stalled rep...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838300
Nature Communications; Shorrocks AK, Jones SE et. al.

Jan 27th, 2021 - The Bloom syndrome helicase BLM interacts with topoisomerase IIIα (TOP3A), RMI1 and RMI2 to form the BTR complex, which dissolves double Holliday junctions to produce non-crossover homologous recombination (HR) products. BLM also promotes DNA-end ...

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7776606
Proceedings of the National Academy of Sciences of the Un... Bononi A, Goto K et. al.

Dec 15th, 2020 - Rare biallelic BLM gene mutations cause Bloom syndrome. Whether BLM heterozygous germline mutations (BLM +/-) cause human cancer remains unclear. We sequenced the germline DNA of 155 mesothelioma patients (33 familial and 122 sporadic). We found 2...

Multidisciplinary management of endocrinopathies and treatment-related toxicities in pa...
https://doi.org/10.1002/pbc.28815
Pediatric Blood & Cancer REFERENCES; Fein Levy C, Presswala LS et. al.

Nov 23rd, 2020 - The treatment of malignancy in cancer predisposition syndromes that also confer exquisite sensitivity to standard chemotherapy and radiation regimens remains a challenge. Bloom syndrome is one such disorder that is caused by a defect in DNA repair...

Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.
https://doi.org/10.1007/s10689-020-00221-1 10.1038/s41572-019-0113-0 10.1159/000452082 10.1200/JCO.2009.21.9972 10.1038/ng0298-184 10.4172/2157-7412.1000177 10.1002/pbc.26433 10.1016/j.ejmg.2017.10.010 10.1002/humu.20501 10.1038/srep14060 10.1097/PAS.0000000000000938 10.1038/s41379-018-0118-3 10.1038/s41571-018-0113-0
Familial Cancer; Huson SM, Staab T et. al.

Nov 21st, 2020 - Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (...

see more →

News  15 results

A Case of Bloom Syndrome With Uncommon Clinical Manifestations Confirmed on Genetic Testing
https://www.mdedge.com/dermatology/article/106435/hair-nails/case-bloom-syndrome-uncommon-clinical-manifestations-confirmed/page/0/1

Feb 9th, 2016 - Comment Patients with Bloom syndrome have a characteristic clinical appearance that typically includes photosensitivity, telangiectatic facial erythema, and growth deficiency. Telangiectatic erythema of the face develops during infancy or early ch.

Update: Direct-to-Consumer Genetic Testing
https://www.medpagetoday.com/genetics/genetictesting/55439

Dec 28th, 2015 - In February, the long-running saga of 23andMe's efforts to sell genetic testing for disease risk as well as ancestry-type information took a new turn when the FDA approved the firm's test for Bloom syndrome, a rare disorder marked by short stature...

2015 Recap: FDA Approves First 23andMe Genetic Test
https://www.medpagetoday.com/genetics/genetictesting/55438

Dec 28th, 2015 - Our Year in Review series highlights some of the major medical news stories of 2015. On Feb. 23, we reported that the FDA had approved the first direct-to-consumer genetic test, marketed by the firm 23andMe. Here is the original article; in a comp...

23andMe Relaunches Lower-Risk DTC Genetic Tests
https://www.medscape.com/viewarticle/853481

Oct 29th, 2015 - The personal genetics testing company called 23andMe relaunched a scaled-back package of lower-risk health tests last week, almost a year after it halted such services on orders from the US Food and Drug Administration (FDA). The new product lineu...

FDA Approves First 23andMe Genetic Test
https://www.medpagetoday.com/genetics/genetictesting/50151

Feb 23rd, 2015 - A test for Bloom syndrome carrier status, a rare condition seen mainly in Ashkenazi Jews (and uncommon among them as well), was approved by the FDA -- remarkable primarily because it's the first time a direct-to-consumer test for a specific geneti...

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