research Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol
PCOS may be linked to spina bifida in young females.
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330-360 / 1000+ resultsresearch Calcitriol-resistant rickets with alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research Androgen receptor activation integrates complex transcriptional effects in osteoblasts, involving the growth factors TGF-β and IGF-I, and transcription factor C/EBPδ
DHT affects bone growth by altering gene activity in osteoblasts, potentially complicating steroid use.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Decaying and expanding Erk gradients process memory of skeletal size during zebrafish fin regeneration
Erk signaling helps zebrafish fins regrow to the right size by using memory of the original size.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research Retinoic-Acid-Related Orphan Receptor Alpha Is Involved in the Regulation of the Cytoskeleton of Hair Follicle Stem Cells
RORA affects hair follicle stem cells' structure and movement, potentially helping treat hair loss.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research The effect of polyphloretin phosphate, polyoestradiol phosphate, a diphosphonate and a polyphosphate on calcification induced by dihydrotachysterol in skin, aorta and kidney of rats
The diphosphonate was the most effective at preventing calcification in rats.
research Expression of retinoic acid receptors and dermal-epidermal interactions during mouse skin morphogenesis
Retinoic acid can change skin development, like turning scales into feathers or forming glands.
research Induction of osteoblastic differentiation of neural crest-derived stem cells from hair follicles
Hair follicle cells can become bone-like cells, useful for bone repair.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Dermal Changes in Osteoporosis Following Prolonged Treatment with Human Growth Hormone
Human growth hormone treatment improved skin thickness and structure in osteoporosis patients.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research 16232 Analysis of androgen excess and association with polycystic ovary syndrome in female-pattern hair loss before 30 years of age
Ankle braces reduce motion, while external focus improves hip and knee movements.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research A Novel Nomogram for Predicting Gonadotropin-Releasing Hormone Analogue Treatment Outcome in Girls with Idiopathic Central Precocious Puberty
A new model helps predict treatment success in girls with early puberty.
research A propòsit de la possible intervenció de Reinard des Fonoll en la construcció de l'església arxiprestal de Morella
Planarians regenerate using conserved gene expression mechanisms, with runt-1 crucial for cell type specification.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.