research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
Search
for
Sort by
Research
960-990 / 1000+ results
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research Investigation of parental socioeconomic status as a determinant of dietary habits and disease severity of sickle cell disease children
Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research The Color Blindness Disorders and the Role of Sex-Linked Genes
No link between finger length ratios and color blindness was found.
research Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified
No link found between specific genes and female pattern hair loss.
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 Scalp dermoscopy of androgenetic alopecia in Asian people
research Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery
Wool color in Gangba sheep is influenced by multiple genes and genetic mechanisms.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Interaction between estrogens and androgen receptor genes microsatellites, prostate-specific antigen and androgen receptor expressions in breast cancer
Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Transgenic HPV11-E2 protein modulates URR activity in vivo
The E2 protein affects gene activity in hair follicles of mice.
research Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
A new mutation in mice causes crooked whiskers and messy hair.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Correction to “MiR‐200c‐3p as a Novel Genetic Marker and Therapeutic Tool for Alopecia Areata”
The article's correction clarifies scientific and methodological concerns about miR-200c-3p's role in alopecia areata.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Glutathione S-transferase gene polymorphism, total antioxidant status, and blood pressure changes in androgenic alopecia
Gene variations may increase oxidative stress in male pattern baldness.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.