research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
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research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations
Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research WNT10A Gene Variants at the Root of Short Anagen Hair Syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Marie Unna Hereditary Hypotrichosis: Identification of a U2HR Mutation in the Family from the Original 1925 Report
Researchers found a gene mutation responsible for a rare hair loss condition.
research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Detection of Five Substitution TPO Mutations in Polycystic Ovary Syndrome and Thyroid Hormones Disturbance Patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
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 Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Pachyonychia Congenita: Sporadic Onset With Mutation Analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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 TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Influence of TRPV3 Mutation on Hair Growth Cycle in Mice
The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.