research Trichilemmal Cysts With Divergent Ductal Differentiation: A Series of 4 Cases
Sweat duct differentiation in trichilemmal cysts is very rare and can be successfully removed with surgery.
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research A previously undescribed cutaneous paraneoplastic syndrome in a cat with thymoma
Thymoma in cats can cause hair loss without inflammation.
research Hiperandrogenismo avanzado en una mujer postmenopáusica: Caso clínico
A postmenopausal woman's high testosterone levels and symptoms improved after removing a tumor from her ovary.
research Poxvirus and Toxoplasma gondii co-infection in a free-ranging Paraguayan hairy dwarf porcupine (Coendou spinosus), Brazil
Neotropical porcupines can get co-infected with poxvirus and Toxoplasma gondii.
research Near missed diagnosis of Merkel Cell Carcinoma in a young immunocompetent woman with a recurrent left-arm mass: A case report
A young woman with a rare skin cancer was diagnosed late because her symptoms were unusual for the disease.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research ORAL CHRONIC ULCER: A DIAGNOSIS CHALLENGE
Diagnosing oral ulcers can be complex and requires careful examination and follow-up.
research Hair-thread tourniquet syndrome of labia: A case report
Removing hair wrapped around the labia quickly prevents serious tissue damage.
research One Transgene: Two Outcomes
Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
A gene variant causes a skin and hair disorder by disrupting protein balance.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
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 CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Cystatin M/E Is a High Affinity Inhibitor of Cathepsin V and Cathepsin L by a Reactive Site That Is Distinct from the Legumain-binding Site
Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.