• A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome
• A Chinese patient with Rothmund-Thomson syndrome
• 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 helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation
• A rare case of meibomian gland dysgenesis in Rothmund-Thomson syndrome
• Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome
• ATM activation is impaired in human cells defective in RecQL4 helicase activity
• ATP-dependent helicase activity is dispensable for the physiological functions of Recql4
• Biallelic variants in <em>DNA2</em> cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
• Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
• Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
• Bloom syndrome helicase contributes to germ line development and longevity in zebrafish
• Cancer risk among RECQL4 heterozygotes
• Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair
• Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome
• Clinical approach to a child with poikiloderma: A case report
• Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
• De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic <em>RECQL4</em> variants
• De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants
• DNA replication initiation factor RECQ4 possesses a role in antagonizing DNA replication initiation
• DNA replication timing alterations identify common markers between distinct progeroid diseases
• DONSON: Slding in 2 the limelight
• Enrichment of heterozygous germline <em>RECQL4</em> loss-of-function variants in pediatric osteosarcoma
• Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by <em>FAM111B</em> mutations: Report of an additional family raising the question of cancer predisposition and a short
• Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset
• Extensive blaschkoid macules and patches since birth
• Failure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity
• Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient
• Functional conservation of RecQ helicase BLM between humans and Drosophila melanogaster
• Gastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson Syndrome
• Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome
• Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation
• Germline <em>NUP98</em> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
• Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
• Hereditary bone tumors
• Histopathologic features of Rothmund-Thomson syndrome
• Human Papillomavirus-induced Cutaneous and Mucosal Lesions in a Patient with Rothmund-Thomson Syndrome
• Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases
• Human RecQ Helicases in DNA Double-Strand Break Repair
• Human RecQL4 as a Novel Molecular Target for Cancer Therapy
• Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells
• Human RECQL4 represses the RAD52-mediated single-strand annealing pathway after ionizing radiation or cisplatin treatment
• Hyper-ubiquitylation 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
• Inherited skin disorders presenting with poikiloderma
• Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase
• iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS
• Malar rash in a young child with neurodevelopmental delay: a quiz
• Management of a granulomatous lesion in a patient with Kindler's Syndrome
• Molecular Mechanisms of the RECQ4 Pathogenic Mutations
• Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
• Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1
• Mutations in conserved functional domains of human RecQ helicases are associated with diseases and cancer: A review
• N-terminal region of RecQ4 inhibits non-homologous end joining and chromatin association of the Ku heterodimer in Xenopus egg extracts
• Neurodegeneration in accelerated aging
• Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome
• Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients
• Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature
• Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome
• Photosensitivity
• Photosensitivity
• Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4
• Poikiloderma Congenitale
• Poikiloderma Congenitale
• Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome
• Pregnancy in a patient with Rothmund-Thomson type 2 syndrome
• Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
• Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene
• Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings
• Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
• RECQ DNA Helicases and Osteosarcoma
• RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting
• RecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integrity
• Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome
• Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction
• Rothmund-Thomson syndrome
• Rothmund-Thomson syndrome (RTS) with osteosarcoma due to <em>RECQL4</em> mutation
• Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation
• Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature
• Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome
• Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan
• Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations
• Rothmund-Thomson syndrome type 2 - a rare cause of chronic wounds
• Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice
• Rothmund-Thomson syndrome, a disorder far from solved
• Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico
• Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome
• Second Osteosarcoma in a 16-Year-old Woman Diagnosed With Rothmund-Thomson Syndrome
• Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction
• Skin Cancer Associated Genodermatoses: A Literature Review
• Skin cancer-associated genodermatoses in skin of color patients: a review
• Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma
• Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition
• Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity
• Synthetic Lethal Interactions of RECQ Helicases
• Tumor Syndromes That Include Bone Tumors: An Update
• Type I Interferon Induction in Cutaneous DNA Damage Syndromes
• Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition
• When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia
• Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case