research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
Search
for
Sort by
Research
270-300 / 1000+ resultsresearch Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research Actions of 5α-reductase inhibitors on the epididymis
5α-reductase inhibitors may reduce male fertility and could be used for male contraception.
research The use of keratin biomaterials derived from human hair for the promotion of rapid regeneration of peripheral nerves
Keratin from human hair helps nerves heal faster.
research Sex differences in the hypothalamic–pituitary–adrenal axis’ response to stress: an important role for gonadal hormones
Male and female bodies respond differently to stress, influenced by hormones and development stages, with implications for stress-related diseases.
research 5α‐Reductase Isozymes and Androgen Actions in the Prostate
5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.
research Effects of Melatonin Supplementation on Hormonal, Inflammatory, Genetic, and Oxidative Stress Parameters in Women With Polycystic Ovary Syndrome
Melatonin may improve some hormonal and inflammatory issues in women with PCOS.
research Androgen receptors and their biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research Molecular Genetic and Endocrine Mechanisms of Hair Growth
Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Disruption of tubular Flcn expression as a mouse model for renal tumor induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Men and women, so different, so similar: observations from cross-sex hormone treatment of transsexual subjects
Cross-sex hormone treatment in transsexual individuals helps understand how sex hormones affect diseases like heart disease and diabetes.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless 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 Cause of Androgenic Alopecia
Male pattern baldness may be caused by scalp pressure on hair follicles, which increases with age and leads to a cycle of hair loss. This process is not directly determined by genes.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research 5α-Metabolism in Finasteride-Treated Subjects and Male Pseudohermaphrodites with Inherited 5α-Reductase Deficiency
Finasteride lowers DHT levels and raises testosterone in a dose-dependent way.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Enhancing dermal collagen density towards youthfulness: A comparative study of PCL, PLLA, and PDO thread implantation in aging rats model.
PCL threads are most effective for youthful skin by boosting collagen.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.