research 1375 Cutaneous adnexal cysts revisited: A novel classification based on morphological and molecular features
The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
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research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research A cDNA encoding the human type I hair keratin hHa1
hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
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 Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Widespread porokeratotic adnexal ostial nevus: Clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus
The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Hypersomatotropism in 3 Cats without Concurrent Diabetes Mellitus
Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues
Trichocytic differentiation starts in cells with epithelial cytokeratins, transitioning to trichocytic cytokeratins in hair and gradually in nails.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research <i>Malassezia</i> Display a Hyphae-like “Spaghetti-and-Meatballs” Configuration in Keratotic Plugs
Malassezia fungi in healthy noses can form a "spaghetti-and-meatballs" structure.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Are there temporal subtypes of premenstrual dysphoric disorder?: using group-based trajectory modeling to identify individual differences in symptom change
The study found three different timing patterns of symptoms in women with premenstrual dysphoric disorder.