research Further errors in polymorph identification: furosemide and finasteride
Errors found in identifying furosemide and finasteride polymorphs due to incomplete data.
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690-720 / 1000+ results research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Clinical symptoms and sex steroid measurements in domestic ferrets (Mustela putorius furo) with hyperadrenocorticism
Neutered ferrets often develop hyperadrenocorticism, with symptoms like hair loss and lethargy, and androstenedione is a key indicator for diagnosis.
research Ichthyosis vulgaris involving the scalp area affected by androgenetic alopecia.
research Data for the article "Increased calcidiol level in redhaired people: Could redheadedness be an adaptation to temperate climate?"
Redheaded people have higher levels of vitamin D precursor, suggesting their hair color may be an adaptation to low sunlight areas.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research 676 An underlying mechanism of hair loss in acrodermatitis enteropathica
Zinc deficiency causes reversible hair loss by disrupting hair growth and stem cell function.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Cover Feature: Electronic Circular Dichroism Imaging (ECD i ) Casts a New Light on the Origin of Solid‐State Chiroptical Properties (Chem. Eur. J. 4/2022)
SR-ECDi helps better understand and map the chiroptical properties of solid chiral materials.
research Both Retinoic Acid Receptors α (RARα) and γ (RARγ) Are Able to Initiate Mouse Upper-Lip Skin Glandular Metaplasia
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Skin Semiology and Grading Scales
The document concludes that dermatology training and grading scales need to better represent dark-skinned individuals to improve diagnosis and assessment of skin conditions.
research Trichostasis spinulosa of the scalp mimicking Alopecia Areata black dots
A man's scalp condition was misidentified as hair loss dots but was actually a common follicular disorder.
research Patchy alopecia areata sparing gray hairs: a case series
Patchy alopecia areata can affect only pigmented hairs, leaving gray hairs untouched.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Cataracts and strabismus associated with hand rearing using artificial milk formulas in Bengal tiger (<i>Panthera tigris spp tigris</i>) cubs
Tiger cubs fed artificial milk lacking certain amino acids developed eye problems and hair loss.
research Masquerading of trichotillomania in a family with monilethrix
It's important to consider genetic hair disorders when diagnosing hair loss.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Retinoid Metabolism Is Altered in Human and Mouse Cicatricial Alopecia
Altered retinoid metabolism in cicatricial alopecia suggests a balanced vitamin A diet may prevent the condition.
research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Aromatase gene variation may increase female hair loss risk.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Current Diagnostic and Therapeutic Practices in Alopecia Areata in Two Mediterranean Countries: A Survey-Based Study
There are significant gaps and inconsistencies in diagnosing and treating alopecia areata in Greece and Italy.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.