research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
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690-720 / 1000+ results research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Plan of analysis for the study "Maternal Hair Cortisol Concentration Trajectories throughout Pregnancy and Adverse Childhood Experiences"
The study aims to see if maternal hair cortisol levels during pregnancy relate to adverse childhood experiences.
research Comparative evaluation of sonographic ovarian morphology of Indian women with polycystic ovary syndrome versus those of normal women
Indian women with PCOS may need different ultrasound criteria for diagnosis than current standards.
research 507 Trial to investigate the role of ATP-sensitive potassium channels (KATPc) in dermal papilla cells (DPCs)
ATP-sensitive potassium channels are important for hair growth.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research Diagnosis of polycystic ovaries syndrome: establishment of reference values of nine hormones on Maglumi X- 8
Reference values for nine hormones were established to help diagnose PCOS.
research The Medicolegal Examination of Hairs
Hair analysis can offer clues about a person, but individual differences limit making precise identifications.
research Use of primary keratinocyte cultures from plucked human hairs for analysis of gap junctional intercellular communication
Hair follicle cultures are effective for studying cell communication and testing chemicals.
research Prediction of cell states and key transcription factors of the human cornea through integrated single-cell omics analyses
A new tool accurately identifies human cornea cell states and key factors.
research Cytokeratin 15 expression in central, centrifugal, cicatricial alopecia: new observations in normal and diseased hair follicles
CK15 is not a reliable marker for stem cells in damaged hair follicles from patients with CCCA.
research Pelvic ultrasound and color Doppler findings in different isosexual precocities
Ultrasound and color Doppler can help diagnose and decide treatment for early puberty in young girls.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
research Hair sheath keratins in follicular tumors. (5). Identification of hair sheath keratins in keratoacanthoma; Histopathological hair sheath structures in the tumor and their significance as differential histopathological criteria from squamous cell carcinoma.
Follicular structures help differentiate keratoacanthoma from squamous cell carcinoma.
research Analysis of the phenotypic variants of polycystic ovarian syndrome in women of reproductive age group
The most common form of PCOS in the group was anovulatory PCOS, with no cases of obese PCOS, highlighting the importance of assessing lean women with menstrual issues.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research Gene expression profiling of human keratinocytes exposed to the hair-dying agent, m-aminophenol
m-Aminophenol in hair dye can cause skin cell toxicity and stress responses.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research Multi-scale spatial mapping of cell populations across anatomical sites in healthy human skin and basal cell carcinoma
The research created a detailed map of skin cells, showing that certain cells in basal cell carcinoma may come from hair follicles and could help the cancer grow.
research W6: Novelties in hair analysis and interpretation issues
Hair analysis can be unreliable due to external contamination and varying drug concentrations.
research RGB video microscopic system for in-vitro monitoring of optical properties of hair shaft and follicle
The system helps monitor hair properties using RGB video microscopy.
research A Rapid Extraction Procedure of Human Hair Proteins and Identification of Phosphorylated Species.
A new method quickly extracts and identifies proteins from hair and other keratin sources.
research Cytokeratin expression in trichoblastic fibroma (small nodular type trichoblastoma), trichoepithelioma and basal cell carcinoma
Trichoblastic fibroma and basal cell carcinoma are similar but different from trichoepithelioma.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Standard DNA Methylation Analysis in Mouse Epidermis: Bisulfite Sequencing, Methylation-Specific PCR, and 5-Methyl-Cytosine (5mC) Immunological Detection
These methods help understand DNA changes in mouse skin.
research Annotation of sheep keratin intermediate filament genes and their patterns of expression
Sheep have 17 keratin genes, similar to humans, but with different expression patterns affecting wool and hair.
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.