research XX/XY chimerism in tortoiseshell tomcats – a new case and review of the literature
Tortoiseshell tomcats with XX/XY chimerism can be fertile.
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research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Intracellular Calcium Mobilization in Response to Ion Channel Regulators via a Calcium-Induced Calcium Release Mechanism
Certain drugs increase calcium levels in cancer cells by triggering internal calcium release.
research Influence of Dosing Time on the Efficacy and Safety of Finasteride in Rats
Dosing time affects finasteride's effectiveness and safety in rats.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Back cover
A new treatment using special microneedles and a nitric oxide-releasing drug could improve hair growth and be more convenient for people with hair loss.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research Autotaxin–lysophosphatidic acid– LPA 3 signaling at the embryo‐epithelial boundary controls decidualization pathways
LPA3 signaling in the uterus is crucial for placental formation and fetal development.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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 Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Effects of the prenatal and postnatal nurturing environment on the phenotype and gut microbiota of mice with polycystic ovary syndrome induced by prenatal androgen exposure: a cross-fostering study
Prenatal and postnatal environments both affect PCOS development and gut microbiota in mice.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Wharton Jelly Hair in a Case of Umbilical Cord Stricture and Fetal Death
Fetal death was caused by umbilical cord stricture with hair growth in the Wharton jelly.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Letter To Editor-Alopecia universalis in Down syndrome: Response totherapy
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.