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930-960 / 1000+ resultsresearch Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Alopecia areata‐like pattern: A new unifying concept
research Study on the expression patterns of inner root sheath-specific genes in Tan sheep hair follicle during different developmental stages
IRS-specific genes in Tan sheep hair follicles peak at birth and may affect wool crimp.
research Mapping the expression of epithelial hair follicle stem cell‐related transcription factors LHX 2 and SOX 9 in the human hair follicle
LHX2 and SOX9 identify unique hair follicle cell groups, crucial for hair maintenance.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Expression of Type II Collagen at the Middle Stages of Chick Embryonic and Human Fetal Skin Development
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
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 Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research An Ultra-high Sulfur Keratin Gene is Expressed Specifically During Hair Growth
research Coregulation of Genetic Programs by the Transcription Factors NFIB and STAT5
NFIB and STAT5 work together to control specific genetic programs in cells.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Synthesis and biological activity evaluation of new isatin-gallate hybrids as antioxidant and anticancer agents (in vitro) and in silico study as anticancer agents and coronavirus inhibitors
New isatin-gallate hybrids show promise as antioxidants, cancer treatments, and coronavirus inhibitors.
research Suppression of eukaryotic initiation factor 4E prevents chemotherapy-induced alopecia
Suppressing eIF4E can prevent hair loss from chemotherapy.
research Connexin 30, a new marker of hyperproliferative epidermis
Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.
research Internal structural changes in age‐related curved hair due to cyclical extension: An IR spectroscopy study
Age-related hair curvature increases due to internal structural changes from grooming.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Whole-Genome Resequencing Reveals Selection Signal Related to Sheep Wool Fineness
Genes linked to wool fineness in sheep have been identified.
research Electrophoretic variability in human hair: Comparative sodium dodecyl sulfate‐polyacrylamide gel electrophoresis of body and head hair proteins
Keratin proteins are consistent across different hair types from the same person.
research 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis
Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Clinical and trichoscopic features of early congenital syphilis: a single-center cross-sectional study
Trichoscopy can help diagnose early congenital syphilis in newborns.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.