research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
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research SOX9 in organogenesis: shared and unique transcriptional functions
SOX9 is essential for the development of various organs and hair follicles.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research Secondary Amenorrhea in a 15-year-old Girl
A 15-year-old girl with missed periods was diagnosed with a pituitary disorder and treated with hormones and steroids.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research New onset alopecia areata during secukinumab therapy
research The Krüppel-like Factor Epiprofin Is Expressed by Epithelium of Developing Teeth, Hair Follicles, and Limb Buds and Promotes Cell Proliferation
Epiprofin helps cells grow in developing teeth, hair, and limbs.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Re-epithelialization of the skin following CO 2 laser resurfacing
Occlusive dressings speed up skin healing after CO2 laser resurfacing.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.
research Ulerythema ophryogenes: successful eyebrow restoration with hair follicle transplantation
research A case of atopic dermatitis with alopecia universalis in a patient treated with abrocitinib
Abrocitinib, a JAK inhibitor, may help treat atopic dermatitis and alopecia universalis together.
research Impeding Glial Scarring Hyperplasia and Activating Axon Neogenesis via Immunomodulatory Microneedle Patch for Spinal Cord Repair
A new microneedle patch helps repair spinal cord injuries by reducing scarring and promoting nerve growth.
research Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report
Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
research Acquired loss of hair pigment associated with a flexural dermatosis
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Chronic Crusted Scalp Lesion of an Elderly Male
An elderly man's non-healing scalp lesion was successfully treated with a strong topical steroid.
research Traumatic Anserine Folliculosis: A Case Report With Review of Differential Diagnosis
Traumatic anserine folliculosis is a harmless skin condition in young males that needs correct diagnosis to avoid unnecessary treatments.
research Multicolor Cell Barcoding Technology for Long-Term Surveillance of Epithelial Regeneration in Zebrafish
Zebrafish skin regeneration relies on cell behaviors and reactive oxygen species, with antioxidants reducing and hydrogen peroxide increasing regeneration.
research Tinea capitis: no incision nor excision
Surgery is not the right treatment for a fungal scalp infection; proper medical treatment is needed.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research A rare cutis verticis gyrata secondary to cerebriform intradermal nevus: case report and literature review
A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
research Hair tourniquet syndrome of toes and fingers in infants
Hair tourniquet syndrome in infants can be treated successfully with immediate hair removal.
research Epidermal-Derived Hedgehog Signaling Drives Mesenchymal Proliferation during Digit Tip Regeneration
Epidermal signaling helps regenerate fingertip tissue.
research Sparse Hair on the Scalp
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.