research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
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research Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review
Topical and oral minoxidil are the best treatments for monilethrix.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
research Purification and characterization of rat liver minoxidil sulphotransferase
Enzyme purified and characterized for minoxidil sulphation in rat liver.
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 Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research MANIFESTATION OF ZINC DEFICIT IN KARACHI PAKISTAN; A CROSS SECTIONAL STUDY
Many in Karachi have zinc deficiency symptoms but lack awareness of zinc's importance.
research Reversible Hyperpigmentation of Skin and Nails With White Hair due to Vitamin B12 Deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which are reversible with treatment.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research Serum phoenixin-14 and phoenixin-20 concentrations in polycystic ovary syndrome: Associations with anti-Müllerian hormone and diagnostic utility
Phoenixin levels are higher in PCOS patients and may help in diagnosis.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Trends in the presence or absence of transaminitis and/or leukopenia in pediatric patients treated with methotrexate for inflammatory skin disease
Most children with skin inflammation taking methotrexate had lab abnormalities, but liver issues often improved without changing the medication dose.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research PBX1-SIRT1 positive feedback loop attenuates ROS-mediated HF- MSC senescence and apoptosis
PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.
research Deletion of adipocyte Sine Oculis Homeobox Homolog 1 prevents lipolysis and attenuates skin fibrosis
Removing SIX1 in fat cells reduces skin fibrosis.
research Prevalence of vitamin D deficiency in Slovak women with polycystic ovary syndrome and its relation to metabolic and reproductive abnormalities
Vitamin D deficiency is common in women with PCOS and linked to some metabolic problems, but not the main cause of their metabolic issues.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Antagonism of NMDA receptors as a potential treatment for Down syndrome: a pilot randomized controlled trial
Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
research Miz1 is required for hair follicle structure and hair morphogenesis
Miz1 is essential for proper hair structure and growth.