research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
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research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research In This Issue
Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Male Pattern Baldness: An Update
Male pattern baldness is a genetic condition causing hair loss, with limited but improving treatment options.
research A Pilot Study of Intrascalp Platelet-Rich Plasma Injections for Hair Loss in Nigerian Patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Counting Hairs: Is It Androgenetic Alopecia or Chronic Telogen Effluvium?
Hair count is important to distinguish between genetic hair thinning (Androgenetic Alopecia) and hair thinning caused by disrupted hair growth (Chronic Telogen Effluvium).
research Maternal Nutrition at Conception Modulates DNA Methylation of Human Metastable Epialleles
A mother's diet at conception can cause lasting genetic changes in her child.
research Rickets With Alopecia: An Inborn Error of Vitamin D Metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
research Adult Polycystic Ovary Syndrome Begins in Childhood
Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
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 Autoimmune Disease Induction in a Healthy Human Organ: A Humanized Mouse Model of Alopecia Areata
Alopecia areata can be triggered by specific immune cells without genetic or environmental factors.
research Nonclassic Congenital Adrenal Hyperplasia
NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
research The Developmental Basis of Fingerprint Pattern Formation and Variation
Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
research In Search of New Therapeutics: Molecular Aspects of the PCOS Pathophysiology - Genetics, Hormones, Metabolism and Beyond
New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.
research Reduced Levels of 5-Alpha Reductase 2 in Adult Prostate Tissue and Implications for BPH Therapy
Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Inherited Epidermolysis Bullosa: Clinical and Therapeutic Aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Pseudopelade: An Inherited Alopecia
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Efficacy of Metformin Therapy in Adolescent Girls with Androgen Excess: Relation to Sex Hormone-Binding Globulin and Androgen Receptor Polymorphisms
Metformin works better for adolescent girls with PCOS who have certain genetic variations.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
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 Hereditary Mucoepithelial Dysplasia: Unique Histopathological Findings in Skin Lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research The Effect of DNMTs and MBPs on Hypomethylation in Systemic Lupus Erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
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.