research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
Search
for
Sort by
Research
750-780 / 1000+ results research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome
Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome
research Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Analysis of Vitamin D Receptor (VDR) Gene Polymorphisms in Alopecia Areata
Vitamin D receptor gene changes don't affect alopecia areata risk.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research A Simple Decision Tree Suited for Identification of Early Oral Drug Candidates With Likely Pharmacokinetic Nonlinearity by Intestinal CYP3A Saturation
The decision tree can predict drug absorption issues with good accuracy but needs more validation and adjustments for other factors.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele
Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Expression of AKT1 along with AKT2 in granulosa-lutein cells of hyperandrogenic PCOS patients
The study found that women with hyperandrogenic PCOS have higher levels of AKT1 and AKT2 proteins in their cells, which may lead to cell dysfunction.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research The role of Twist1 in UVB-induced skin carcinogenesis
Deleting Twist1 in skin cells reduces UVB-induced skin cancer risk.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
Certain genetic markers can indicate a person's risk of developing prostate cancer.
research Abstracts from the 4th Annual Student Medical Summit
The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
research The Effects of Induced Polycystic Ovary Syndrome in NAG-1 Transgenic Mice
NAG-1 may help prevent some metabolic issues related to PCOS.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Characterization and functional analysis of Krtap11-1 during hair follicle development in Angora rabbits (Oryctolagus cuniculus)
research Characterization of Novel Cutaneous Human Papillomavirus Genotypes HPV-150 and HPV-151
HPV-150 and HPV-151 are rare skin viruses linked to warts and some skin cancers.