research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
Search
for
Sort by
Research
930-960 / 1000+ results research Chromosomal Localization of Mouse Hair Keratin Genesa
Most mouse hair keratin genes are on chromosomes 11 and 15.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Runx Family Genes in Tissue Stem Cell Dynamics
Runx genes are important for stem cell regulation and their roles in aging and disease need more research.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Mite Burden and Immunophenotypic Response to Demodex musculi in Swiss Webster, BALB/c, C57BL/6, and NSG Mice
NSG mice had the most mites, and genetic factors affect immune response and susceptibility.
research Targeted expression of SV40 T antigen in the hair follicle of transgenic mice produces an aberrant hair phenotype
SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research MON-024 Steroid Cell Tumor, Not Otherwise Specified; A Rare Case of Hyperandrogenism
A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
research 821 Pigmentation and autophagy in alopecia areata pathogenesis
Reduced Stx17 expression may contribute to Alopecia Areata.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
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 Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
research Genome assembly and methylome analysis of the white wax scale insect provides insight into sexual differentiation of metamorphosis in hexapod
The white wax scale insect's genome shows that complete metamorphosis evolved earlier than thought and highlights differences in male and female development.
research Predicting Human Appearance from DNA for Forensic Investigations
DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research CSI on steroids
Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Fadrozole and finasteride exposures modulate sex steroid- and thyroid hormone-related gene expression in Silurana (Xenopus) tropicalis early larval development
Fadrozole and finasteride change gene expression related to sex hormones and thyroid hormones in frog larvae development.