research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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180-210 / 294 resultsresearch 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 Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
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 Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
research An Interesting Case of Hepatic Adrenocortical Carcinoma
A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
research Abstracts From The 55th European Society Of Human Genetics 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 Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Hirsutism: A Comprehensive Update of Embryology, Aetiopathogenesis, and Therapeutic Approach
The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
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 Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Haplotypes Spanning Centromeric Regions Reveal Persistence of Large Blocks of Archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research Fertility Evaluation of Infertile Women: A Committee Opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Pharmacological Efficacy of Tamarix Aphylla: A Comprehensive Review
Tamarix aphylla may be effective for various medical conditions, but more research is needed to confirm its safety and effectiveness.
research Cutaneous Gene Therapy
Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
research Use of Induced Pluripotent Stem Cells in Dermatological Research
iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Comparative Analysis of Biological Properties of Large-Scale Expanded Adult Neural Crest-Derived Stem Cells Isolated from Human Hair Follicle and Skin Dermis
Skin-derived stem cells grow faster and are easier to obtain than hair follicle stem cells, but both can become various cell types.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Fertility Counseling and Preservation: Considerations for the Pediatric Endocrinologist
Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Generation of iPS Cells from Human Hair Follicle Dermal Papilla Cells
Researchers made stem cells from human hair follicle cells with better efficiency than from skin cells.
research Beyond DNA-Targeting in Cancer Chemotherapy: Emerging Frontiers - A Review
New cancer treatments aim to reduce side effects and improve effectiveness.
research Cutaneous Extramedullary Hematopoiesis: Implications in Human Disease and Treatment
Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.