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750-780 / 1000+ results research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Masquerading of trichotillomania in a family with monilethrix
It's important to consider genetic hair disorders when diagnosing hair loss.
research Abstract 10845: Spontaneous Coronary Artery Dissection as the Primary Presentation of Ana-Negative Lupus
SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
research An eruption of numerous spiny papules in a pediatric transplant patient
Early recognition and treatment of VATS in transplant patients improve outcomes.
research Claves diagnósticas en displasias pilosas II
Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
research Abstract 5202: Bone marrow-derived epithelial cells contribute to chronic skin inflammation and skin tumor formation in the mouse
Bone marrow-derived cells can lead to skin inflammation and tumors in mice.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research SkIndia Quiz 24: Itchy papules over face
A rare skin condition called Eruptive Vellus Hair Cyst can cause itchy papules on the face.
research Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector
Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
research The use of a retinoid receptor antagonist in a new model to study vitamin A-dependent developmental events.
The retinoid receptor antagonist effectively disrupts vitamin A-related development in embryos.
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 Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Tricorrexis nudosa localizada por aplicación compulsiva de minoxidil
Excessive minoxidil use can damage hair structure.
research Sex Hormones and Related Compounds, Including Hormonal Contraceptives
Hormonal contraceptives and related compounds can increase health risks like thrombosis and affect sexual function.
research Animals in Dermatology
Using animal names for skin conditions helps with learning and memory.
research Patient Satisfaction and Quality of Life Among Adult Women with Androgenetic Alopecia Using 5% Topical Minoxidil.
Most women with hair loss using 5% topical Minoxidil are satisfied with the treatment, but hair loss still affects their daily habits and social life.
research Parsing patterns: Emerging roles of tissue self-organization in health and disease
Understanding tissue self-organization can improve treatments for diseases and advance regenerative medicine.
research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organ
Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
research An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
research Squamous epithelial proliferation induced by walleye dermal sarcoma retrovirus cyclin in transgenic mice
The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
research Alopecia Universalis Associated with Ulcerative Colitis and The Role of Azathioprine
A man with complete hair loss and ulcerative colitis regrew hair after treatment with azathioprine.
research The anatomical distribution of lentiginous melanoma (lentigo maligna and lentigo maligna melanoma): Differences according to sex
Lentiginous melanoma is most common on the face, especially the nose, cheek, and pre-auricular areas, with men more likely to have it on the scalp, ears, upper back, and trapezius, and women on the cheek and anterior arm. Sun damage is a key factor in its formation.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes
Ectodysplasin inhibits Wnt signaling to help form hair follicles.