research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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900-930 / 1000+ resultsresearch Effect of longtime selenium-deficient feeding on the neurobehavioral development of the fourth generation rats in lactation.
Selenium and iodine deficiencies cause delayed growth and abnormal neural behavior in rats.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
research NEONATAL INHIBITION OF ANDROGEN ACTIVITY ALTERS THE PROGRAMMING OF BODY WEIGHT AND OREXINERGIC PEPTIDES DIFFERENTIALLY IN MALE AND FEMALE RATS
Blocking androgen activity in newborn rats affects body weight and appetite-related hormones differently in males and females.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Decision letter: A counter gradient of Activin A and follistatin instructs the timing of hair cell differentiation in the murine cochlea
Activin A promotes ear hair cell development, while follistatin delays it.
research Endoscopy-assisted craniosynostosis
Endoscopy-assisted surgery for craniosynostosis showed excellent outcomes with minimal complications and most patients went home the day after surgery.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Inhibition of neurosteroid synthesis increases asphyxia-induced brain injury in the late gestation fetal sheep
Reducing neurosteroid levels worsens brain injury in fetal sheep.
research Identification of Anabolic Selective Androgen Receptor Modulators with Reduced Activities in Reproductive Tissues and Sebaceous Glands
Two new compounds were found to build bone and muscle without affecting reproductive organs and skin oil glands.
research Cell Cycle Regulation and Regeneration
Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
research The Role of Thymosin Beta 4 on Odontogenic Differentiation in Human Dental Pulp Cells
Thymosin Beta 4 helps human dental pulp cells develop into tooth-forming cells, suggesting it could aid dental regeneration.
research The effects of fulvic acids and low-level laser therapy on orthodontic retention in rats
Low-level laser therapy reduces orthodontic relapse in rats, but fulvic acids do not.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research CD34 + cell–derived fibroblast-macrophage cross-talk drives limb ischemia recovery through the OSM-ANGPTL signaling axis
CD34+ cells help heal damaged limbs by promoting blood vessel growth.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Premature adrenarche, polycystic ovary syndrome and intrauterine growth retardation: does a relationship exist?
Low birthweight and rapid weight gain after birth may increase the risk of developing polycystic ovary syndrome.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity
Ornithine decarboxylase is crucial for hair growth regulation in mice.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Degradation of human hair keratin scaffold material used to repair in-jured skeletal muscles of rabbits
research Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7
The guidelines recommend informed consent for gender-affirming treatments and stress the importance of personalized, culturally sensitive care for transgender individuals.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research Endocrine Treatment of Transsexual Persons:An Endocrine Society Clinical Practice Guideline
The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
research A Prospective Study of the Prevalence of the Polycystic Ovary Syndrome in Unselected Caucasian Women from Spain1
Polycystic ovary syndrome is found in 6.5% of unselected Caucasian women in Spain.
research Pharmacology of anabolic steroids
Anabolic steroids can build muscle and strength but have risks and need more research on their clinical benefits and side effects.
research The Browning of White Adipose Tissue: Some Burning Issues
Turning white fat into brown-like fat could help fight obesity and type 2 diabetes.
research Plants used in cosmetics
Natural products in cosmetics are beneficial for skin and hair care with low toxicity.