research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
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research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Learning from nudity: lessons from the nude phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research Cryptococcoid Sweet syndrome: A case report and literature review
Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Cronkhite-Canada syndrome associated with colon cancer metastatic to liver
A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
research [Nevoid bundle hairs].
Naevoid bundle hair is an unusual hair growth pattern where multiple hairs fuse together.
research Therapeutic Efficacy of Combination Therapy Using Oral Cyclosporine with a Dietary Supplement (Pantogar®) in Twenty-Nail Dystrophy
Oral cyclosporine combined with Pantogar® effectively treats twenty-nail dystrophy.
research Unilateral nevoid hyperkeratosis of the nipple and areola in a Saudi female
Calcipotriol cream reduced skin thickening and itching in a rare nipple condition.
research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research A Classic Presentation of Acne Keloidalis Nuchae in a Black Male
Acne keloidalis nuchae causes scarring on the scalp, mainly in African American males, and early treatment is important to prevent lasting damage.
research Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea
First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Rare virilizing tumor: ovarian steroid cell tumor, not otherwise specified: a case report
A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research A case of acquired trichorrhexis nodosa after applying new hair spray
New hair spray caused a hair shaft disorder.
research Editor's evaluation: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.