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About 653 results

ALLMedicine™ Dyskeratosis Congenita Center

Research & Reviews  254 results

Cancer in Inherited Bone Marrow Failure Syndromes
https://clinicaltrials.gov/ct2/show/NCT00027274

May 13th, 2022 - Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic ca...

Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskera...
https://doi.org/10.1182/blood.2021013750
Blood Choo S, Lorbeer FK et. al.

Apr 15th, 2022 - Mutations in the TINF2 gene, encoding the shelterin protein TIN2, cause telomere shortening and the inherited bone marrow failure syndrome dyskeratosis congenita (DC). A lack of suitable model systems limits the mechanistic understanding of telome...

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth...
https://doi.org/10.1002/mgg3.1934
Molecular Genetics & Genomic Medicine; Guo Q, Zhang P et. al.

Apr 7th, 2022 - DKC1, the dyskerin encoding gene, functions in telomerase activity and telomere maintenance. DKC1 mutations cause a multisystem disease, dyskeratosis congenita (DC), which is associated with immunodeficiency and bone marrow failure. In this resear...

Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
https://clinicaltrials.gov/ct2/show/NCT02162420

Jan 21st, 2022 - Fludarabine-based preparative regimen followed by an allogeneic hematopoietic stem cell transplant using related or unrelated donor in persons 0-70 years of age diagnosed with dyskeratosis congenita or severe aplastic anemia who have bone marrow f...

Inherited human Apollo deficiency causes severe bone marrow failure and developmental d...
https://doi.org/10.1182/blood.2021010791
Blood Kermasson L, Churikov D et. al.

Jan 11th, 2022 - Inherited bone marrow failure syndromes (IBMFSs) are a group of disorders typified by impaired production of 1 or several blood cell types. The telomere biology disorders dyskeratosis congenita (DC) and its severe variant, Høyeraal-Hreidarsson (HH...

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Clinicaltrials.gov  5 results

Cancer in Inherited Bone Marrow Failure Syndromes
https://clinicaltrials.gov/ct2/show/NCT00027274

May 13th, 2022 - Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic ca...

Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
https://clinicaltrials.gov/ct2/show/NCT02162420

Jan 21st, 2022 - Fludarabine-based preparative regimen followed by an allogeneic hematopoietic stem cell transplant using related or unrelated donor in persons 0-70 years of age diagnosed with dyskeratosis congenita or severe aplastic anemia who have bone marrow f...

The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis
https://clinicaltrials.gov/ct2/show/NCT04638517

Sep 23rd, 2021 - TELO-SCOPE is a national, multi-centre, double-blind, placebo-controlled, randomised trial which will be conducted in subjects aged >5 years with a multi-disciplinary diagnosis of pulmonary fibrosis and with age-adjusted telomere length below the ...

Danazol for Treatment of Cytopenias in Patients With Cirrhosis
https://clinicaltrials.gov/ct2/show/NCT04873102

May 5th, 2021 - Most studies estimate that between 6 and 77% of all patients with cirrhosis have abnormal hematologic indices (AHI), including anemia, thrombocytopenia and leukopenia. In a homogenous population of patients with compensated Child-Pugh Class (CPC) ...

Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
https://clinicaltrials.gov/ct2/show/NCT00455312

Dec 5th, 2017 - This is an open label, single arm, phase II clinical trial designed to evaluate the safety and efficacy of the treatment regimen. Efficacy will be measured by long-term engraftment of the transplanted cells.The primary endpoint of neutrophil engra...

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News  2 results

CRISPR sheds light on dyskeratosis congenita
https://www.mdedge.com/hematology-oncology/article/185535/anemia/crispr-sheds-light-dyskeratosis-congenita
HT Staff

Jul 28th, 2017 - Image by Marquet Minor Chromosomes in blue with telomeres in green Gene editing has revealed how dyskeratosis congenita (DC) impairs the formation of blood cells, according to research published in Stem Cell Reports. The discovery has opened up ne.

Bowen Disease of the Nail Bed Presenting as Longitudinal Melanonychia: Detection of Human Papillomavirus Type 56 DNA
https://www.mdedge.com/dermatology/article/66907/bowen-disease-nail-bed-presenting-longitudinal-melanonychia-detection
Lambiase MC, Gardner TL et. al.

Bowen disease (BD) of the nail unit has multiple clinical presentations, often making its diagnosis challenging. BD is a squamous cell carcinoma (SCC) in situ with various cited etiologic causes, including ionizing and nonionizing radiation, hydro.

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