research A mouse with bad hair and poor taste
A defective gene causes hair loss and taste insensitivity in BTBR mice.
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240-270 / 1000+ results research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research ORAL TOFACITINIB IN MODERATE AND SEVERE ALOPECIA AREATA: CASE SERIES OF 14 PATIENTS
Tofacitinib helped regrow hair in most patients with severe hair loss.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
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 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research A functional polymorphism in interleukin-1α (IL1A) gene is associated with risk of alopecia areata in Chinese populations
A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
research Association of Single Nucleotide Polymorphisms in the CYP19A1 Gene with Female Pattern Hair Loss in a Chinese Population
Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Peripheral neuropathy associated with tofacitinib use in alopecia universalis
A patient developed nerve problems as a side effect of a hair loss treatment called tofacitinib.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research 331 An open label clinical trial of the JAK inhibitor tofacitinib for alopecia areata
Tofacitinib helped over half of the patients with severe hair loss regrow at least 50% of their hair.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research Learning from nudity: lessons from the nude phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research 058 The pattern of Fas and Fas ligand expression in alopecia areata
The Fas/FasL pathway may play a role in alopecia areata.
research Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts
Alternating treatment with two drugs could help cells in a rapid aging disease.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.