About 145 results

ALLMedicine™ Rothmund-Thomson Syndrome Center

Research & Reviews  56 results

Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to ost...
PLoS Genetics; Jewell BE, Xu A et. al.

Dec 30th, 2021 - Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. Type 2 RTS patients with biallelic RECQL4 pa...

Human RecQL4 as a Novel Molecular Target for Cancer Therapy.
Cytogenetic and Genome Research; Balajee AS

Sep 3rd, 2021 - Human RecQ helicases play diverse roles in the maintenance of genomic stability. Inactivating mutations in 3 of the 5 human RecQ helicases are responsible for the pathogenesis of Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome...

Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three...
The Journal of Dermatology; Zhang Y, Qin W et. al.

Jun 23rd, 2021 - Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer predisposition. Mutations in ANAPC1 or RECQL4 have been identified to underlie RTS...

Inherited skin disorders presenting with poikiloderma.
International Journal of Dermatology; Rayinda T, van Steensel M et. al.

Mar 20th, 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...

Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochond...
The Journal of Investigative Dermatology; Hussain M, Krishnamurthy S et. al.

Dec 24th, 2020 - Defects in DNA repair pathways and alterations of mitochondrial energy metabolism have been reported in multiple skin disorders. More than 10% of patients with primary mitochondrial dysfunction exhibit dermatological features including rashes and ...

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Clinicaltrials.gov  1 results

Calcium Absorption in Patients With Rothmund-Thomson Syndrome

Jul 23rd, 2020 - This is an evaluation of bone calcium deposition in patients with Rothmund-Thomson Syndrome (RTS). This study includes one study visit during which subjects will be admitted to the inpatient unit in the Pediatric GCRC at TCH where they will underg...

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News  1 results

Asymptomatic Annular Plaques on the Neck
Indy S. Chabra, MD, PhD, Lisa Maria Grandinetti, MD

Oct 3rd, 2014 - The Diagnosis: D-Penicillamine–Induced Elastosis Perforans Serpiginosa A 27-year-old woman was referred to our clinic by her rheumatologist with a 2×5-cm annular plaque on the right side of the lateral neck along with nummular plaques on the left.

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