research Treatment-Resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
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research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Pilot Study: Genetic Distribution of AR, FGF5, SULT1A1, and CYP3A5 Polymorphisms in Male Mexican Population with Androgenetic Alopecia
Certain genetic variations are linked to hair loss in Mexican men.
research Comprehensive Overview of Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common condition in women that can cause metabolic, reproductive, and psychological issues, and requires lifestyle changes and medication for management.
research YAP And TAZ Are Essential For Basal And Squamous Cell Carcinoma Initiation
YAP and TAZ proteins are necessary for the development of two types of skin cancer.
research Cystathionine Beta-Synthase-Deficient Mice Thrive on a Low-Methionine Diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Polycystic Ovary Syndrome: A Complex Condition with Psychological, Reproductive, and Metabolic Manifestations That Impacts Health Across the Lifespan
Polycystic ovary syndrome is a complex condition that affects women's mental, reproductive, and metabolic health throughout their lives.
research The Agouti Mouse Model: An Epigenetic Biosensor for Nutritional and Environmental Alterations on the Fetal Epigenome
Diet changes can protect against harmful environmental effects on fetal development.
research Hair Growth Promoting Effects of Adipose Tissue-Derived Stem Cells
Fat tissue stem cells may help increase hair growth.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Frontal Fibrosing Alopecia: A Review of 355 Cases in a Spanish Population
Hormonal imbalances may play a role in frontal fibrosing alopecia, and antiandrogenic drugs combined with steroids are currently the most effective treatment.
research Hair Follicle Morphogenesis and Epidermal Homeostasis in We/We Wal/Wal Mice with Postnatal Alopecia
The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
research The Great Atopic Diseases Epidemic: Does Chemical Exposure Play a Role?
Chemical exposure may contribute to the rise in atopic diseases and needs more research.
research Alopecia in Women Submitted to Childhood X-Ray Epilation for Tinea Capitis Treatment
Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Alopecia Universalis After Discontinuation of Pegylated Interferon and Ribavirin Combination Therapy for Hepatitis C: A Case Report
A man lost all his hair after stopping hepatitis C treatment and it didn't grow back.
research The Hair Growth Promoting Effect of 4-O-Methylhonokiol
4-O-methylhonokiol from Magnolia officinalis significantly promotes hair growth.
research Anti-TNF Antibody-Induced Psoriasiform Skin Lesions in Patients with Inflammatory Bowel Disease Are Characterised by Interferon-γ-Expressing Th1 Cells and IL-17A/IL-22-Expressing Th17 Cells and Respond to Anti-IL-12/IL-23 Antibody Treatment
Anti-IL-12/IL-23 antibody therapy effectively treats psoriasiform skin lesions in IBD patients.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research 25 Hydroxyvitamin D 1 Alpha-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis
The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
research The Pathophysiology of Polycystic Ovary Syndrome: Understanding PCOS and Its Endocrinology
The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.
research The Pathogenesis of Alopecia Areata
Alopecia areata is likely caused by a combination of genetic factors and immune system dysfunction, and may represent different diseases with various causes.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.