research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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750-780 / 1000+ results research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research A comparative study of linear and nonlinear ANNs as classifiers of animal hair fibers
Nonlinear artificial neural networks are better at identifying different types of animal hair than linear ones.
research A new family of Acarines belonging to the suborder Sarcoptiformes parasitic in the hair follicles of Primates
Two new mite species were found in a monkey's hair follicles, leading to a new genus and family proposal.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Trichofolliculoma: a rare variant of hair follicle hamartoma
Trichofolliculoma is a rare skin bump on the face or scalp.
research Polymorphism in the A2M gene associated with high-quality milk in Murrah buffaloes (Bubalus bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research Noggin overexpression inhibits eyelid opening by altering epidermal apoptosis and differentiation
Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Solitary Nasal Fibrofolliculoma
A rare, harmless skin tumor was found on a man's nose.
research Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis
A 9-year-old boy had a rare scalp condition usually seen in young men.
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 Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.
research Structural variation-driven FADS2P1 expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Ruth M. Kempson, Presupposition and the delimitation of semantics (Cambridge Studies in Linguistics, 15). Cambridge: Cambridge University Press, 1975. Pp. xi + 235; - Deirdre Wilson, Presuppositions and non-truth-conditional semantics. London: Academic Press, 1975. Pp. xiii + 161.
The conclusion cannot be provided because the text is a citation, not a document with content to summarize.
research Novel anti-aging gene NM_026333 contributes to proton-induced aging via NCX1-pathway
The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
research A Qualitative Review of Misinformation on Alopecia
Misinformation about alopecia can lead to poor treatment, so it's important for healthcare professionals to correct myths.
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.