research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
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research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
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 Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Influence of Myosin Regulatory Light Chain and Myosin Light Chain Kinase on the Physiological Function of Inner Ear Hair Cells
NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research Upadacitinib: A New Weapon for the Treatment of Twenty-Nail Dystrophy
Upadacitinib may effectively treat twenty-nail dystrophy without causing pain.
research P153 : Safety and Efficacy of botulinum toxin on male pattern baldness
Botulinum toxin type A is a safe and effective treatment for male pattern baldness.
research Active mitochondria in healthy spiny mouse fibroblasts resemble megamitochondria and remain resilient across lifespan
Spiny mice have resilient, large mitochondria that help them regenerate tissue.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
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 Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research Abstract 1026: A non-apoptotic function for Mcl-1 as an activator of canonical Wnt signaling in keratinocytes
Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
research Pseudoxanthoma-like late-onset focal dermal elastosis
A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.