research Genetics underlying phenotypic diversity in South African sheep breeds
South African sheep breeds have diverse genes affecting traits like coat color, horn development, and wool quality.
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750-780 / 1000+ resultsresearch Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Comparison of mathematical indices of insulin resistance for clinical application in the four phenotypes of polycystic ovarian syndrome
Insulin resistance varies among PCOS types, and simple math tools can help identify it early.
research 40 PRLR and PCCA variants associated with hair length in Brangus heifers
Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
research Polycystic Ovary Syndrome Phenotypes and Infertility Treatment
Different PCOS types respond uniquely to infertility treatments, with some having lower pregnancy rates and higher risks of complications.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Design, Synthesis, and Biological Characterization of Metabolically Stable Selective Androgen Receptor Modulators
Researchers developed new compounds that target the androgen receptor effectively with fewer side effects.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
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 Correlation of Metabolic Syndrome in Different Phenotypes of Polycystic Ovary Syndrome and Pregnancy Rate
Different types of PCOS affect metabolic syndrome and pregnancy rates differently.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Gene that causes woolly hair revealed
Mutations in the P2RY5 gene cause hereditary woolly hair.
research Genetic Single Nucleotide Polymorphisms of IL-16 and its Concentration of Patients Infected with Alopecia Areata in Diyala Province, Iraq
Certain genetic variations in IL-16 may increase the risk of alopecia areata.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research Molecular characterization of caprineKRTAP13-3in Liaoning cashmere goat in China
The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Forensic DNA Phenotyping: Male Pattern Baldness: Traditional Review
DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Ethanol Patch Test—A Simple and Sensitive Method for Identifying ALDH Phenotype
The ethanol patch test reliably identifies ALDH phenotype.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Pyrene Excimer Nucleic Acid Probes for Biomolecule Signaling
Pyrene excimer nucleic acid probes are promising for detecting biomolecules accurately with potential for biological research and drug screening.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research Evaluation of a novel hybrid polymer in hair treatment
The new polymer improves dyed hair's color, moisture, shine, and smoothness.