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.
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research Safety concerns of paternal drug exposure on fertility, pregnancy and offspring: An analysis based on the FDA adverse event reporting system
Paternal drug exposure can harm fertility, pregnancy outcomes, and offspring health, with specific drugs linked to various reproductive issues.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research 저항훈련은 랫 골격근에서 finasteride에 의해 유도된 단백질 항상성 교란을 개선시킨다
Resistance exercise helps improve muscle protein balance disrupted by finasteride.
research 細胞配置と力学的刺激の複合効果がもたらす毛髪および皮膚附属器官の完全生体外再生
Hair follicles and skin structures were successfully regenerated in the lab using specific cell arrangements and mechanical conditions.
research The influence of non-esterified fatty acids (NEFA) on the ovarian production of androgens in a context of in vitro fertilisation (IVF) – preliminary results
High levels of fatty acids are linked to increased androgen production and inflammation in women with PCOS, which may affect IVF outcomes.
research Tuberous sclerosis: Clinical findings in 57 patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research The assessment of the effect of calcium, magnesium, and vitamin D supplementation by the hair multielement profile follow up.
Calcium and magnesium levels in hair decrease after taking supplements, indicating early metabolic changes in perimenopausal women.
research Dermatological drugs, topical agents, and cosmetics
Natural products like propolis are causing more skin allergies, and certain skin treatments and medications have various side effects and risks.
research Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
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 Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Ligand-Independent Actions of Vitamin D Receptor
The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.
research Mechanism of Vitamin D Receptor Action
Vitamin D receptor is essential for healthy bones and skin.
research Ectodysplasin-A (EDA) Signaling Cross-Talk in Skeletogenesis
The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research The Stem Cell Niche in Regenerative Medicine
Targeting and modifying the stem cell niche can improve regenerative therapies.
research Regulation of adult stem cell quiescence and its functions in the maintenance of tissue integrity
Quiescent adult stem cells are crucial for tissue repair and maintenance.
research Epigenetic control of adult stem cell function
Epigenetic changes control how adult stem cells work and can lead to diseases like cancer if they go wrong.
research Gonadal Function Abnormalities in Sickle Cell Anemia
Sickle cell anemia causes hormone issues and delayed puberty due to testicular failure.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.
TRPS1 is crucial for bone, kidney, and hair follicle development.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Intracrine and Myotrophic Roles of 5α-Reductase and Androgens
Muscles can make their own androgens, which may help muscle growth.
research The Role of Pannexin 3 in Bone Biology
Pannexin 3 is important for bone formation and the development of bone cells.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Treatment of Satoyoshi syndrome: a systematic review
Corticosteroids are the most effective treatment for Satoyoshi syndrome.