research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
Search
for
Sort by
Research
960-990 / 1000+ results research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research A Complex Clinical Situation in Polycystic Ovary Syndrome: HAIR‐AN Syndrome ‘‘Case Report’’
Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
research Serum and hair zinc in cystic fibrosis.
CF patients with growth issues have more zinc in their hair than those with normal growth.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research The accelerated aging skin in rhino‐like SHJHhr mice
The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
research Polycystic Ovary Syndrome in Adolescence
PCOS starts in adolescence with hormonal issues, leading to adult health problems, and early treatment is crucial.
research POLİKİSTİK OVER SENDROMU'NUN ALT GRUPLARINDA METABOLİK ÖZELLİKLER
Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Cloning and sequence analysis of KAP 6.1 gene in Xinjiang fine-wool sheep
Researchers cloned a gene from Xinjiang fine-wool sheep, finding it very similar to other sheep and somewhat similar to goats, humans, and rabbits.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes
Genes like MC1R, TYR, MITF, ASIP, and KIT determine horse and donkey coat colors and affect breeding and health.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Cutaneous xanthomas with concurrent demodicosis and dermatophytosis in a cat
A cat with skin bumps and itching had high blood fats and skin infections, which improved with diet and medication changes.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Divergences in insulin resistance between the different phenotypes of the polycystic ovary syndrome
Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
research Overactive Wnt5a signaling disrupts hair follicle polarity during mouse skin development
Overactive Wnt5a disrupts hair follicle orientation in mice.
research Foxn1 promotes keratinocyte differentiation by regulating the activity of protein kinase C
Foxn1 helps skin cells mature by controlling a specific protein's activity.