Rothmund-Thomson Syndrome Latest Advances

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

Journal: bioRxiv : the preprint server for biology

Published: August 08, 2025

Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Journal: American journal of medical genetics. Part A

Published: May 05, 2025

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defects.

Journal: G3 (Bethesda, Md.)

Published: April 11, 2025

An overview of RecQ helicases and related diseases.

Journal: Aging

Published: April 07, 2025

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.

Journal: American journal of medical genetics. Part A

Published: March 24, 2025

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

Journal: Cancer genetics

Published: March 05, 2024

Atypical presentations of RECQL4-related syndromes.

Journal: Pediatric blood & cancer

Published: December 27, 2023

A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.

Journal: Clinical case reports

Published: December 26, 2023

RECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome.

Journal: Nature communications

Published: November 27, 2023

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Journal: American journal of medical genetics. Part A

Published: October 09, 2023

Rothmund-Thomson syndrome, a disorder far from solved.

Journal: Frontiers in aging

Published: September 18, 2023

Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.

Journal: The Journal of biological chemistry

Published: June 13, 2023

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Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.

Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defects.

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defects.

An overview of RecQ helicases and related diseases.

An overview of RecQ helicases and related diseases.

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

RECQL4-related Rothmund-Thomson syndrome: A case series and literature review.

Atypical presentations of RECQL4-related syndromes.

Atypical presentations of RECQL4-related syndromes.

A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.

A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.

RECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome.

RECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome.

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Rothmund-Thomson syndrome, a disorder far from solved.

Rothmund-Thomson syndrome, a disorder far from solved.

Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.

Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.