research Convergent evolution has led to the loss of claw proteins in snakes and worm lizards
Snakes and worm lizards lost claw proteins due to similar evolutionary changes.
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research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3
Insulin therapy helped a man with autoimmune issues regrow his hair.
research Utilisation of gonadotrophin-releasing hormone (GnRH) analogue to differentiate ovarian from adrenal hyperandrogenism in postmenopausal women
GnRH analogue can help diagnose ovarian causes of high testosterone in postmenopausal women when scans don't show the cause.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Lugol's solution-induced painless thyroiditis
Lugol's solution can cause thyroid problems if used long-term for non-approved reasons.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Immunolocalization of a Histidine-Rich Epidermal Differentiation Protein in the Chicken Supports the Hypothesis of an Evolutionary Developmental Link between the Embryonic Subperiderm and Feather Barbs and Barbules
A specific protein in chicken embryos links early skin layers to feather development.
research Single-cell transcriptomics defines keratinocyte differentiation in avian scutate scales
The research identified two types of keratinocytes in chicken scales: one for hard scales and another for soft skin, with similarities to human skin differentiation.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research OBESITY-RELATED FACTORS INVOLVED IN ENDOPLASMIC RETICULUM STRESS INDUCTION IN ADIPOCYTES
Adipose tissue changes in obesity can trigger stress in fat cells.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
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 Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
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 Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research EDA and EDAR expression at different stages of hair follicle development in cashmere goats and effects on expression of related genes
EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Stimulation of ectodermal organ development by Ectodysplasin-A1
Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
research EDA Fibronectin Microarchitecture and YAP Translocation During Wound Closure
Correcting EDA fibronectin organization and YAP translocation can improve wound healing in fibrotic conditions.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Homeostatic maintenance of the murine corneal epithelium in pathophysiological contexts
Corneal health relies on cell migration and cooperation with the lacrimal gland, not Bmi1+ cells, and Eda gene mutations can cause dry eye disease.
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Coordinating the Sculptors: Ectodysplasin-A (EDA) Signaling Cross-Talk with Skeletogenic Pathways
EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.