research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
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research PRX102 Participates in Root Hairs Tip Growth of Rice
PRX102 is essential for rice root hair growth by helping transport substances to the tips.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research Evaluation of a new X-ray fluorescent analysis technique for the creation of a Nordic hair database: elemental distributions within the root and the virgin segment of hair fibers.
The new X-ray technique allows for precise and non-destructive measurement of elements in hair, creating the first database of its kind for a specific ethnic group.
research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
A gene mutation causes curly hair and hair loss in rats.
research Development of radioiodinated nonsteroidal androgen receptor ligands for spect imaging of prostate cancer
Scientists at the University of Michigan Medical School successfully created a special compound that can be used to improve imaging of prostate cancer.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Roxithromycin antagonizes catagen induction in murine and human hair follicles: implication of topical roxithromycin as hair restoration reagent
Roxithromycin, an antibiotic, can increase hair growth and might be used as a treatment for hair loss.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Severe steroid-dependent idiopathic angioedema with response to rituximab
A woman with severe angioedema improved significantly after treatment with rituximab.
research A Case of Topical Ruxolitinib Treatment Failure in Alopecia Areata
Topical ruxolitinib failed to regrow hair in a 66-year-old with alopecia areata.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research 138 Characterization of xenobiotic metabolizing enzymes of a reconstructed human epidermal model from adult hair follicles
The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Ruxolitinib found to cause eyelash growth: a case report
Ruxolitinib treatment may cause eyelash growth.
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research Treatment of vitiligo with the topical Janus kinase inhibitor ruxolitinib: A 32-week open-label extension study with optional narrow-band ultraviolet B
research Patient Considerations when Using Ritlecitinib for Alopecia Areata in Adolescents: Guidance for the Clinicians
Clinicians should consider individual factors and communicate risks and benefits when prescribing ritlecitinib for adolescent alopecia areata.
research 24 ARQ-234: a high affinity CD200-Fc fusion protein for the treatment of atopic dermatitis
ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research The Effects of X-irradiation on Collagen Metabolism in Rat Skin
X-irradiation reduces collagen in rat skin, causing delayed skin damage.
research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
research SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research Dermatological findings in common rheumatologic diseases in children
Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.
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.