research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
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750-780 / 1000+ resultsresearch The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy
Effective management of ichthyoses requires genetic counseling and appropriate treatments.
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.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Lesson of the week: Haemochromatosis as an endocrine cause of subfertility
Haemochromatosis can cause infertility by affecting hormone glands.
research A case of eruptive lichen spinulosus after toxic epidermal necrolysis
A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research A notch above bowl: Specification of niche cells in the Drosophila testis
Notch signaling is crucial for specifying niche cells in Drosophila testis.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Generation of Tβ4 knock-in Cashmere goat using CRISPR/Cas9
Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research A rare case of an androgen-producing stromal luteoma of the ovary in a postmenopausal woman, diagnosed by means of selective venous blood sampling
Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Transcriptome Analysis of Improved Wool Production in Skin-Specific Transgenic Sheep Overexpressing Ovine β-Catenin
Genetically modified sheep with more β-catenin grew more wool without changing the wool's length or thickness.
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 Differentiation of nitrogen-fixing nodules of Sesbania rostrata with special reference to oleosomes (lipid bodies)
Oleosomes help cell growth in Sesbania rostrata nodules but don't aid nitrogen fixation.
research Expression of lipid-protein gene PLP2 in Liaoning cashmere goat
The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
research PREVENTION OF GRAFT-VERSUS-HOST DISEASE BY INTRATHYMIC INJECTION OF RECIPIENT-TYPE SPLENOCYTES INTO DONOR1
Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research A Case of Rhupus with Rowell Syndrome
A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Acquired Localized Hypertrichosis Following Cast Application for Fracture
Increased hair growth after a cast is temporary and harmless.