Vol. 28, No. 4, 2016 503 Received May 8, 2015, Revised July 25, 2015, Accepted for publication July 27, 2015 Corresponding author: Soo-Chan Kim, Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea. Tel: 82-2-2019-3362, Fax: 82-2-3463-6136, E-mail: [email protected] This is an Open Access article distributed under...

Dermatology is an incredibly simple subject. The fact that there are over 1000 different skin diseases, each of which may appear in several disguises, with a correspondingly confusing nomenclature, is irrelevant, since diagnosis is not necessary for successful therapy. Dermatological diagnosis is undoubtedly useful for impressing less gifted colleagues who are only to be trusted with mechanisti...

Ribonucleases are central components of the eukaryotic RNA processing and decay machineries. They participate in processing of stable RNA species and pre-mRNA molecules as well as remove unwanted molecules like: RNA processing by-products and malformed RNA species that are identified by surveillance pathways. Finally, ribonucleases participle in mRNA turnover and regulated mRNA decay pathways. ...

BACKGROUND Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender N...

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced acral blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. Other clinical features include chronic erosive gingivitis, dysphagia, esophageal and urethral strictures, ectropion, and an increased risk of mucocutaneous squamous cell carcinoma. We describe a patient with Kindl...

Kindler syndrome is a rare, autosomal, recessive genodermatosis characterized by trauma-induced acral blisters in infancy and childhood, photosensitivity and progressive poikiloderma. Very few cases in the literature report an association with squamous cell carcinoma, even though it is a very well-known, long-term complication. A case involving a 23-year-old woman with a history of Kindler synd...

A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the corn...

Recent studies from independent laboratories have decisively disclosed the identity of the long-sought 3-5' RNA exonuclease that trims posttranscriptionally the oligouridine tail of U6, which is the small catalytic non-coding RNA promoting premRNA splicing within the spliceosome. This exonuclease, dubbed Mpn1 or Usb1, is a highly conserved enzyme that specifically removes uridines from the 3' e...