Search
for
Sort by
Research
300-330 / 1000+ results
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Decision letter: A counter gradient of Activin A and follistatin instructs the timing of hair cell differentiation in the murine cochlea
Activin A promotes ear hair cell development, while follistatin delays it.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Chemical Screening for Hair Cell Loss and Protection in the Zebrafish Lateral Line
PROTO1 and PROTO2 protect against hearing damage.
research KCNQ4 K+ channels tune mechanoreceptors for normal touch sensation in mouse and man
research Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis
Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Dissecting cellulitis (Perifolliculitis Capitis Abscedens et Suffodiens): a comprehensive review focusing on new treatments and findings of the last decade with commentary comparing the therapies and causes of dissecting cellulitis to hidradenitis suppura
New treatments for Dissecting cellulitis show promise, but more research is needed to understand the disease and establish a standard treatment plan.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research KCNQ Potassium Channels Modulate Sensitivity of Skin Down-hair (D-hair) Mechanoreceptors
KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
research Intravital imaging of hair-cell development and regeneration in the zebrafish
Zebrafish can help study and develop treatments for hearing loss.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
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 Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Trichilemmal cyst of the neck: case report and review of the literature
A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Hypertrichosis Induced by Minoxidil: A Case of Systemic Absorption from Scalp Occlusion
Improper use of minoxidil can cause excessive hair growth.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research Animals in Dermatology
Using animal names for skin conditions helps with learning and memory.
research An approach to disorders of pigmentation
The document concludes that pigmentation disorders in animals involve complex interactions between melanocytes and keratinocytes.
research Molecular Genetics of Human Hair Diseases
research Localization of intercellular adhesion molecule-1 in middle ear cholesteatoma
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.