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TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

9 citations , April 2020 in “Journal of dermatology”

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother

January 2026 in “American Journal of Medical Genetics Part A”

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

research A Case of Relapsed Leprosy Successfully Treated With Sparfloxacin

6 citations , November 1996 in “Archives of Dermatology”

A man's relapsed leprosy was successfully treated with the antibiotic sparfloxacin.

Efficient Genome Editing Using CRISPR/Cas9 Ribonucleoprotein Approach in iPS Cells for Recessive Dystrophic Epidermolysis Bullosa

research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa

April 2019 in “Journal of Investigative Dermatology”

Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.

research 311 Single-cell transcriptomics reveals distinct molecular programs in folliculotropic mycosis fungoides

April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology”

Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.

research Exploring Variation in Ovine KRTAP19-5 and Its Effect on Fine Wool Fibre Curvature in Chinese Tan Sheep

4 citations , July 2024 in “Animals”

The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.

research P368 Rare skin disorders in IBD patients treated with anti-TNFs

2 citations , February 2014 in “Journal of Crohn's and colitis”

Some IBD patients on anti-TNFs developed severe skin issues, but ustekinumab helped.

research Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

8 citations , July 2015 in “International Journal of Dermatology”

A new DSG4 gene mutation causes hair defects in a young girl.

research Shushing down the epigenetic landscape towards stem cell differentiation

1 citations , June 2010 in “Development”

The document concludes that pig iPSCs show promise for transplant therapies and the field is advancing in controlling cell behavior for biology and medicine.

research Evaluation of Patellar Tendon Structural Changes following Biological Treatments: Secondary Analysis of Double-Blinded Clinical Trial of Bone Marrow Mesenchymal Stromal Cells and Leukocyte-Poor Platelet-Rich Plasma

2 citations , July 2024 in “Biomedicines”

Bone marrow cells improved tendon health better than platelet-rich plasma.

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