research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
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360-390 / 1000+ resultsresearch 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research The functions and possible significance of Kremen as the gatekeeper of Wnt signalling in development and pathology
Kremen is crucial for proper development and preventing tumors by regulating Wnt signaling.
research Hookworm-related cutaneous larva migrans: our 201st patient
research Board Certification
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Cellular localization of retinoic acid receptor-gamma expression in normal and neoplastic skin.
RAR-gamma 1 is important for normal skin maintenance and differentiation.
research 153 Effectiveness of OR-101, a next generation highly selective JAK3 inhibitor, in a humanized murine model of alopecia areata
OR-101 shows promise for treating alopecia areata by improving hair growth.
research Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled
Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
research 52252 Analysis of basal cell carcinoma and trichoepithelioma with digital spatial profiling
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Efficacy and Safety of Switching from Baricitinib to Ritlecitinib in Severe Alopecia Areata
Switching to ritlecitinib improves hair regrowth and well-being in severe alopecia areata patients.
research 578 Addressing the missing components for appropriate surveillance of Merkel cell carcinoma patients: Detailed recurrence data and an integrated risk analysis approach
Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
research Mouse Intestinal Krt15+ Crypt Cells Are Radio-Resistant and Tumor Initiating
Krt15+ cells in the mouse intestine resist radiation and can start tumors.
research A phase 2a study investigating the effects of ritlecitinib on brainstem auditory evoked potentials and intraepidermal nerve fiber histology in adults with alopecia areata
Ritlecitinib is safe and may effectively treat alopecia areata.
research The T-cell antigen receptor: paradigm recalled
research CS12192 Reverses Alopecia Areata by Selectively Targeting JAK3/JAK1/TBK1.
CS12192 effectively treats alopecia areata with better safety than current options.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research NAC transcription factor RD26 is a regulator of root hair morphogenic plasticity
RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
research Trichocyte Keratin-Associated Proteins (KAPs)
research Community Detection and Patient Experience Analysis in Reddit Conversations on Janus Kinase Inhibitors using Large Language Models
A few users dominate Reddit discussions on JAK inhibitors, highlighting social media's potential for tracking drug safety but needing expert oversight.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research 44047 Long Term Real-World Treat-to-Target Skin Clearance and Maintenance of Response with Risankizumab in Patients with Moderate to Severe Psoriasis From the CorEvitas Psoriasis Registry
Risankizumab effectively treats and maintains skin clearance in moderate-to-severe psoriasis.
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research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.