research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
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960-990 / 1000+ resultsresearch Is zinc deficiency a worldwide problem and is there a silent epidemic in Saudi Arabia?
Zinc deficiency is common in Saudi Arabia and needs attention to prevent health issues.
research Approach to androgen excess in women: Clinical and biochemical insights
The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Cutaneous Manifestations of Endocrine Disease
Endocrine diseases in children can cause various skin and hair changes.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Elevated Dehydroepiandrosterone Sulfate Levels as the Reproductive Phenotype in the Brothers of Women with Polycystic Ovary Syndrome
Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
research Three cases of androgen‐dependent disease associated with myotonic dystrophy
Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research 42003 Hormonal profile of androgenetic alopecia in adolescents and its association with metabolic dysfunction: single center retrospective study
Adolescents with hair loss show different hormone levels by sex and often have related metabolic issues.
research An Unusual Case of Elevated Testosterone: When Testosterone by Dialysis Saves the Day
Equilibrium dialysis can accurately measure testosterone levels when lab results are inconsistent.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research Results of Complete Blood Cell Count, Fasting Blood Sugar, Rheumatoid Factor, C - Reactive Protein, Anti Nuclear Antibody and Thyroid Function Tests in Patients with Alopecia Areata
Many patients with Alopecia Areata have underlying autoimmune disorders, especially thyroid issues.
research 9243 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
A rare ovarian tumor caused high testosterone in a postmenopausal woman, resolved by surgery.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research OR2AT4, an Ectopic Olfactory Receptor, Suppresses Oxidative Stress-Induced Senescence in Human Keratinocytes
OR2AT4 helps reduce aging and cell damage in human skin cells.
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 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research Hyperandrogenism in a postmenopausal woman: a rare case of ectopic adrenal cortical gland
A postmenopausal woman's excess male hormone symptoms were caused by a rare adrenal gland tissue in her ovary.
research Vitamin D Status and the Effect of Oral Vitamin D Treatment in Children with Alopecia Areata
Oral vitamin D treatment can help some children with alopecia areata who have vitamin D deficiency.
research Dehydroepiandrosterone- and glucose-6-phosphate-dehydrogenases in the hair cycle of the rat
research ADRENAL ONCOCYTOMA IN CHILDREN – case report
A rare adrenal tumor in a 9-year-old girl was successfully treated with surgery.
research Impaired Arginine Metabolism in Hair Follicles: A Potential Mechanism in Androgenetic Alopecia
Problems with arginine processing in hair follicles might contribute to common hair loss, and arginine supplements could help treat it.
research Dissertation_UdS_Brand
People with Alopecia areata often have lower Vitamin D levels.