research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
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research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research No Evidence that 2D:4D is Related to the Number of CAG Repeats in the Androgen Receptor Gene
Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research The Transmembrane Serine Protease HAT-like 4 Is Important for Epidermal Barrier Function to Prevent Body Fluid Loss
HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research Study on the zona pellucida 4 (ZP4) gene sequence and its expression in the ovaries of patients with polycystic ovary syndrome
The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research A mouse with bad hair and poor taste
A defective gene causes hair loss and taste insensitivity in BTBR mice.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Regulatory T Cells: the Many Faces of Foxp3
Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Molecular characterization of HOXC8 gene and methylation status analysis of its exon 1 associated with the length of cashmere fiber in Liaoning cashmere goat
The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Modulation of Photoaging-Induced Cutaneous Elastin: Evaluation of Gene and Protein Expression of Markers Related to Elastogenesis Under Different Photoexposure Conditions
UV exposure accelerates skin aging by altering elastin, leading to wrinkles.
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.