research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
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720-750 / 1000+ resultsresearch Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Generalized Alopecia with Vasculitis-Like Changes in a Dog with Babesiosis
The dog's skin and anemia issues returned after stopping treatment for Babesia gibsoni.
research Bilateral Periorbital Erythema and Swelling as an Initial Presentation of Systemic Lupus Erythematosus: A Rare Case
Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
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 NEW FORMULATIONS: Glatiramer acetate
Lifestyle changes are more effective than medication for managing PCOS-related risks.
research Lichen planus pigmentosus and lichen planopilaris
Some people with lichen planus pigmentosus might later develop frontal fibrosing alopecia.
research Μελέτη των πολυμορφισμών IΙe 49 Ser του γονιδίου της αντιμυλλεριανικής ορμόνης (ΑΜΗ) ΚΑΙ 482 Α>G του υποδοχέα τύπου ΙΙ της αντιμυλλεριανικής ορμόνης (AMHR) σε γυναίκες με σύνδρομο των πολυκυστικών ωοθηκών (PCOS)
The AMHR2-482A>G gene change is linked to higher PCOS risk.
research Amyopathic dermatomyositis presenting as severe alopecia and prominent eyelid edema: a case report and literature review
Accurate diagnosis is crucial for effectively treating severe alopecia and related symptoms.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research A Case of Proliferative and Membranous Lupus Nephritis Complicated by Cryoglobulin-like Hyaline Thrombi
Lupus nephritis can cause severe kidney and blood vessel problems.
research Bilateral Eyelid Pseudoptosis From Lipogranulomas of the Preaponeurotic Fat Pads
Surgical removal of abnormal fat pads fixed the woman's eyelid issue caused by likely silicone injections.
research BH07: Testosterone deficiency in men with female pattern hair loss
Low testosterone levels may contribute to female pattern hair loss in men.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Çocukta obezite ile birlikte lipoödematöz skalp
An 11-year-old obese girl was diagnosed with lipedematous scalp, a condition with swollen scalp tissue usually found in adult women.
research Faculty Opinions recommendation of Sex hormone-binding globulin and risk of hyperglycemia in patients with androgenetic alopecia.
People with early onset baldness (AGA) have higher blood sugar levels and lower sex hormone-binding globulin (SHBG) levels, suggesting SHBG could predict high blood sugar in these individuals.
research Hepatitis Lupus in Systemic Lupus Erythematosus in Male Patients
Lupus hepatitis can affect male SLE patients and is treatable with specific medications.
research The Association of Serum Adipokines, Insulin Resistance and Vitamin D Status in Male Patients with Androgenetic Alopecia
Higher leptin and lower vitamin D levels may contribute to male pattern baldness.
research Drug-induced postinfantile giant cell hepatitis
Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
research Leflunomide for the treatment of trichodysplasia spinulosa in a liver transplant recipient
Leflunomide successfully treated a rare skin condition in a liver transplant patient.
research Metabolic dysfunction-associated steatotic liver disease is associated with androgenetic alopecia in adults with stronger effects in women and unhealthy lifestyles
Liver disease is linked to hair loss, especially in women and those with unhealthy lifestyles.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research CLINICAL SPECTRUM AND IMMUNOLOGICAL PROFILE OF PATIENTS WITH MIXED CONNECTIVE TISSUE DISEASE PRESENTING IN A TERTIARY CARE HOSPITAL
Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.
research Human essential fatty acid deficiency: treatment by topical application of linoleic acid.
Applying linoleic acid to the skin fixed essential fatty acid deficiency symptoms.
research P44 An acutely unwell and rare presentation of systemic lupus erythematosus; a case report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research Body Fat Distribution in Thai Reproductive-Aged Polycystic Ovary Syndrome Women Compared with Non-Polycystic Ovary Syndrome Women
PCOS women have more arm fat and higher insulin resistance and glucose levels than non-PCOS women.