research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
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810-840 / 1000+ resultsresearch STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds
Certain genes in Iranian sheep are linked to wool production and heat adaptation.
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart
The gene causing hair loss and heart issues in rough coat mice is still unknown.
research Relevance of the Axis Spermidine/eIF5A for Plant Growth and Development
Spermidine is essential for plant growth and adaptation to stress.
research Serum anti-Müllerian hormone: A potential biomarker for polycystic ovary syndrome
AMH is a promising biomarker for diagnosing PCOS.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Maintenance of Barrier Tissue Integrity by Unconventional Lymphocytes
Unconventional lymphocytes are important for quick immune responses and healing of skin and mucosal barriers.
research Triglycerides, independent of Ferriman Gallwey Score, is a main determinant of free testosterone index in PCOS
High triglyceride levels are a key factor affecting testosterone levels in women with PCOS.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Uncharted waters
New DNA analysis and machine learning are advancing forensic science, improving accuracy and expanding into non-human applications.
research 3D Microtumors Representing Ovarian Cancer Minimal Residual Disease Respond to the Fatty Acid Oxidation Inhibitor Perhexiline
Perhexiline can effectively target ovarian cancer cells left after treatment.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata
Certain genes may be linked to autoimmune conditions in people with alopecia areata.
research Spherical Skin Model: Stratified Co‐Culture of Fibroblasts and Keratinocytes on Spherical Beads Toward Compound Screening
The Spherical Skin Model improves drug and cosmetic testing by accurately mimicking human skin for efficient compound screening.
research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
research Culture Strategy Determines the Differentiation Status of Sweat Gland Cells
3D culture better preserves sweat gland cell identity than 2D culture.
research Dynamic immunomodulatory nanoarchitectonics: Rewiring tissue regenerative microenvironment via intelligent regulation
Nanotechnology can improve tissue healing by controlling immune responses.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research AUTOIMMUNE CICATRICIAL ALOPECIA AND THE ROLE OF TRICHOSCOPY IN ITS DIAGNOSIS: A LITERATURE REVIEW
Trichoscopy is essential for diagnosing and treating autoimmune cicatricial alopecia early.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research When one size does not fit all: Reconsidering PCOS etiology, diagnosis, clinical subgroups, and subgroup-specific treatments
Different types of PCOS need specific diagnosis methods and treatments.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research Tissue insulin sensitivity and body weight in polycystic ovary syndrome
Lean and obese women with PCOS have similar levels of insulin resistance, indicating it's a core aspect of the condition.