research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
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research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research E-Poster
Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research ТУБЕРОЗНЫЙ СКЛЕРОЗ (БУРНЕВИЛЛЯ-ПРИНГЛА). ОБЗОР ЛИТЕРАТУРЫ
Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research Skin wound healing in humans and mice: Challenges in translational research
The document concludes that mouse models are helpful but have limitations for skin wound healing research, and suggests using larger animals and genetically modified mice for better human application.
research Towards a “free radical theory of graying”: melanocyte apoptosis in the aging human hair follicle is an indicator of oxidative stress induced tissue damage
Oxidative stress causes hair to gray by damaging and killing pigment cells.
research Androgens in women
Androgens play a complex role in skin conditions like acne and hair loss in women, and normal blood levels don't always show true androgen status.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Female Androgenetic Alopecia: A Separate Entity
Female and male AGA are different diseases.
research Tissue insulin sensitivity and body weight in polycystic ovary syndrome
Lean and obese women with PCOS have similar levels of insulin resistance, indicating it's a core aspect of the condition.
research Arthroderma vanbreuseghemiiinfection in three family members with kerion and tinea corporis
A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Precocious Puberty
Early puberty is more common in girls and African-American children, possibly due to nutrition, obesity, stress, and environmental factors, and is treated with hormone therapy.
research COVID-19 infection leading to acute pustular dermatoses
COVID-19 can directly trigger certain skin conditions like pustular dermatoses due to an inflammatory response.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Hair Loss Diagnosis Using Artificial Neural Networks
Neural networks can effectively predict hair loss.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research The involvement of androgens in human hair growth
Androgens play a key role in hair growth and disorders like baldness and excessive hairiness.
research Diagnostic challenges in determining alopecia areata
Diagnosing alopecia areata is challenging and requires careful examination and various tests to distinguish it from other hair loss types.
research Androgеnеtic Alopеcia: A Comprеhеnsivе Rеviеw of Pathogеnеsis, Diagnosis, and Trеatmеnt Options
Androgenetic alopecia causes hair loss, and early, ongoing treatment is key for best results.
research Formononetin: Novel Deal for Androgenetic Alopecia
Formononetin, found in red clover, may treat hair loss with fewer side effects.
research The most common trichological problems of the scalp
Effective scalp problem treatment needs a comprehensive approach.
research Clinical Perspectives on Alopecia: From Hair Follicle Biology to Advanced Therapies
Alopecia can often be managed effectively with various treatments, but early diagnosis is crucial for preventing permanent hair loss.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.