research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Alopecia androgénica femenina: nuevos factores fisiopatológicos y futuras tendencias para un abordaje clínico más integral
New factors in female hair loss include genetics, hormones, stress, and inflammation; future treatments should also focus on these areas and consider the patient's emotional well-being.
research IMPACT OF BIOMARKER IN PREDICATIVE TO RESPONSE ADJUVANT CHEMOTHERAPY AND OVERALL SURVIVAL IN FEMALES INFECTED WITH BREAST CANCER: A REVIEW ARTICLES
Certain genes can predict how well breast cancer patients respond to chemotherapy.
research Alopecia areata: a review of disease pathogenesis
Alopecia areata is likely an autoimmune disease with unclear triggers, involving various immune cells and molecules, and currently has no cure.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Development and progression of alopecia in the vitamin D receptor null mouse
Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
research Androgenetic alopecia in men and women
Androgenetic alopecia involves genetics, hormones, and can be treated with medications or surgery.
research Ultrasound-activated particles as CRISPR/Cas9 delivery system for androgenic alopecia therapy
Scientists have created a new hair loss treatment using ultrasound to deliver gene-editing particles, which resulted in up to 90% hair regrowth in mice.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Tuning Wnt Signals for More or Fewer Hairs
Changing Wnt signaling can lead to more or less hair growth and might help treat hair loss and skin conditions.
research Alopecia Areata. Current situation and perspectives
Alopecia Areata is a complex, unpredictable autoimmune hair loss condition with limited treatment options and a significant psychological impact.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Alopecia Areata
The document concludes that ongoing research using animal models is crucial for better understanding and treating Alopecia Areata.
research Promotion of Insulin-Like Growth Factor-I Production by Sensory Neuron Stimulation; Molecular Mechanism(s) and Therapeutic Implications
Stimulating sensory neurons can increase IGF-I production, which may help treat various diseases and improve tissue health.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Overexpression of Nanog in amniotic fluid–derived mesenchymal stem cells accelerates dermal papilla cell activity and promotes hair follicle regeneration
Nanog gene boosts stem cells, helps hair growth, and may treat hair loss.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Hairless Up‐Regulates Tgf‐β2 Expression via Down‐Regulation of miR‐31 in the Skin of “Hairpoor” (HrHp) Mice
HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Stimuli-responsive nanoformulations for CRISPR-Cas9 genome editing
Advancements in nanoformulations for CRISPR-Cas9 genome editing can respond to specific triggers for controlled gene editing, showing promise in treating incurable diseases, but challenges like precision and system design complexity still need to be addressed.
research Alopecia in children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review
Thyroid and skin autoimmune diseases share genetic and immune links, affecting both tissues.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.