research Cross-linked features of mouse pelage hair resistant to detergent extraction
Some mutant mice have hair with abnormal cross-linking, mainly in the cuticle, not affecting other hair parts.
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research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO
Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Overactive Wnt5a signaling disrupts hair follicle polarity during mouse skin development
Overactive Wnt5a disrupts hair follicle orientation in mice.
research Prematüre Pubarş Olgularının Değerlendirilmesi: Tek Merkez Deneyimi
Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
research Polycystic Ovarian Morphology is Associated with Hyperandrogenemia and Insulin Resistance in Women with Polycystic Ovary Syndrome (PCOS)
Women with PCOS and polycystic ovaries have higher male hormone levels and more insulin resistance, especially if they are overweight.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Imaging sonographic findings of in a case of proliferating trichilemmal tumor of a finger: A case report
A rare finger tumor was imaged, showing a unique pattern not seen before.
research Pattern of body fat distribution in patients of PCOS using DEXA-based indices
PCOS patients have more central body fat, which can be effectively measured using DEXA.
research Giant folliculosebaceous cystic hamartoma
A 15-year-old boy had a rare skin growth on his buttock.
research Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair
Giant axonal neuropathy changes the structure of keratin in human hair.
research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome
The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research Full investigation of patients with polycystic ovary syndrome (PCOS) presenting to four different clinical specialties reveals significant differences and undiagnosed morbidity
Many women with PCOS have undiagnosed health issues and show different symptoms based on the clinic they visit.
research Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Lichen planopilaris can occur with multiple autoimmune diseases.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Coexpression of Keratins Characteristic of Skin and Hair Differentiation in Nail Cells
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Easier and More Efficient Implanting: A Two-Handed Technique for Faster and Less Traumatic Graft Placement
Using both hands to place grafts makes the process quicker and less painful.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Hair fragility (trichorrhexis nodosa) in alopecic Pomeranian dogs
Trichography is important for diagnosing hair fragility in Pomeranian dogs with hair cycle issues.
research Akne Vulgaris Hastalarında İkinci Parmağın Dördüncü Parmağa Oranının (2D:4D) ve Otizm Puanlarının Sağlıklı Kontroller ile Karşılaştırılması
No significant differences in finger ratios or autism scores were found between acne patients and healthy individuals.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Prevalence and characteristics of polycystic ovarian syndrome in women attending in outpatient department of obstetrics and gynecology of Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
Polycystic Ovary Syndrome (PCOS) is common in infertile women and obese women with PCOS have more severe ovulatory problems, needing more care.