research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
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research Revised NPRT Classification System Encompasses Additional Patterns of Male and Female Hair Loss
The updated NPRT system now covers different types of hair loss in men and women.
research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research The Effects of Induced Polycystic Ovary Syndrome in NAG-1 Transgenic Mice
NAG-1 may help prevent some metabolic issues related to PCOS.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Nano-pulse stimulation™ therapy (NPS™) is superior to cryoablation in clearing murine melanoma tumors
Nano-Pulse Stimulation™ Therapy is more effective and less damaging than cryoablation for treating melanoma tumors in mice.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Woolly hair nevus
A 17-year-old developed woolly hair nevus in adolescence, which is unusual, and over time the hair darkened and straightened slightly, but microscopic changes persisted.
research Unravelling the molecular basis for symbiotic signal transduction in legumes
Legumes use flavonoids to start a process with rhizobia for nitrogen fixation, involving specific genes and proteins.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Expression and Distribution of the Guanine Nucleotide-binding Protein Subunit Alpha-s in Mice Skin Tissues and Its Association with White and Black Coat Colors
The protein Gnαs is found more in black mice than white mice and may influence their coat color.
research Role of the Differentiation of Root Epidermal Cells in Nod Factor (from Rhizobium meliloti)-Induced Root-Hair Depolarization of Medicago sativa
The differentiation stage of root epidermal cells is crucial for root hair depolarization in Medicago sativa when exposed to specific Nod factors.
research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
research Trichorrhexis Nodosa
Trichorrhexis nodosa is mainly caused by hair trauma and improves with gentler hair care.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Paint brush hair: a case report
Shaving and avoiding brushing improved the patient's beard hair condition.
research Lesions in the skin, intestine, and central nervous system induced by an antimetabolite of niacin.
Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.
research Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.