research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
Search
for
Sort by
Research
810-840 / 1000+ results
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Catalytic Antibodies in Norm and Systemic Lupus Erythematosus
Catalytic antibodies are early indicators and active participants in the development of systemic lupus erythematosus.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research A First Case of Complete Resolution of Hair Loss in a Patient With Rheumatoid Arthritis and Concomitant Alopecia Universalis Treated With Filgotinib
Filgotinib completely reversed hair loss in a patient with rheumatoid arthritis and alopecia universalis.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Applications of Ultrasound-Mediated Gene Delivery in Regenerative Medicine
Ultrasound can help deliver genes to cells to stimulate tissue regeneration and enhance hair growth, but more research is needed to perfect the method.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Case of alopecia induced by sorafenib, possible mechanism similar to alopecia areata
Sorafenib may cause hair loss in a way similar to alopecia areata.
research Kinase Inhibition with BAY 43–9006 in Renal Cell Carcinoma
BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research The sheep KAP8-2 gene, a new KAP8 family member that is absent in humans
Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
research Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
research Systemic lupus erythematosus in a filly.
SLE should be considered in horses with immune-related skin issues.
research Genetically engineered biomimetic ATP-responsive nanozyme for the treatment of cardiac fibrosis
A new engineered treatment shows promise in curing heart fibrosis.
research Long‐Term Management with Adipose Tissue‐Derived Mesenchymal Stem Cells and Conventional Treatment in a Dog with Hepatocutaneous Syndrome
Combining amino acid and stem cell therapy may help manage hepatocutaneous syndrome in dogs.
research 518 Nutrient and stress sensing as novel physiological regulator of human hair pigmentation and greying: Role of mTORC1 activity
Blocking mTORC1 activity could increase hair pigmentation and potentially reverse greying.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research MALASSEZIA FUNGAL DERMATITIS AND RHIPICEPHALUS SANGUINEUS TICK INFESTATION IN MIXED BREED DOGS
The dog's skin condition improved with treatment, and prevention includes keeping it dry, clean, and away from stray dogs.
research Ethosome: a novel vesicular carrier for transdermal drug delivery
Ethosomes are effective, safe carriers for delivering drugs through the skin.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
research MicroRNA control of signal transduction
MicroRNAs are crucial in controlling cell signaling, affecting cancer and tissue regeneration.
research PROTACs in cancer therapy: targeted degradation of GPX4, PARP and epigenetic regulators
PROTACs show promise in cancer treatment by effectively degrading specific harmful proteins.