research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
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810-840 / 1000+ results research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Congenital Copper Deficiency: Copper Therapy and Dopamine‐β‐Hydroxylase Activity in the Mottled (Brindled) Mouse
Copper therapy improved health and enzyme activity in mice with copper deficiency.
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 Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Cronkhite-Canada syndrome associated with colon cancer metastatic to liver
A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
research Evaluation Of The Use Of Cyclophosphamide In Children Diagnosed With Steroid Resistant Nephrotic Syndrome Treated In The 3rd Floor Treatment At Fatmawati Hospital
Cyclophosphamide helped 59.4% of children with steroid-resistant nephrotic syndrome but caused side effects in 40.6%.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Preclinical Pharmacology, Antitumor Activity, and Development of Pharmacodynamic Markers for the Novel, Potent AKT Inhibitor CCT128930
CCT128930 is a promising new drug that effectively targets and inhibits a cancer-related protein, showing potential for cancer treatment.
research 852 Targeted deletion of crif1 in mouse skin epidermis impairs skin homeostasis
Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research Mucinosis folicular. Reporte de un caso pediátrico
Follicular mucinosis in a 15-year-old is usually harmless but needs monitoring for possible lymphoma.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Keratinization and its Disorders
Mutations in keratin genes can cause skin and mucosa disorders.