research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
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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 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Culture Strategy Determines the Differentiation Status of Sweat Gland Cells
3D culture better preserves sweat gland cell identity than 2D culture.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling
Blocking CXCR4 may help treat hidradenitis suppurativa.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research Exploring the Causal Relationship Between Plasma Proteins and Obstructive Sleep Apnea: A Study Using Genome-Wide Mendelian Randomization, Single-Cell RNA Sequencing Analysis, and Network Pharmacology
Certain plasma proteins and genes are linked to obstructive sleep apnea, suggesting potential new treatments.
research Hox in the Niche Controls Hairy-geneity
Hox genes control hair growth patterns in mammals by regulating stem cell activity in the skin.
research Sphingolipid metabolism orchestrates establishment of the hair follicle stem cell compartment
Ceramide Synthase 4 is crucial for maintaining hair follicle stem cells and preventing hair loss.
research Changes in the Expression of Smooth Muscle Cell–Related Genes in Human Dermal Sheath Cup Cells Associated with the Treatment Outcome of Autologous Cell–Based Therapy for Male and Female Pattern Hair Loss
Lower levels of certain genes in hair cells improve hair loss treatment outcomes.
research The disruption of Sox21-mediated hair shaft cuticle differentiation causes cyclic alopecia in mice
Disrupting the Sox21 gene in mice causes hair loss and regrowth cycles.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research LncRNA018392 promotes proliferation of Liaoning cashmere goat skin fibroblasts through up-regulation of CSF1R by binding to SPI1
A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research 256 Expression patterns of the Siah genes in postnatal mouse skin
The Siah1 and Siah2 genes are active in mouse skin development and hair growth, especially right after birth.
research Blood group O and post-COVID-19 syndrome
People with blood group O may have a higher risk of developing post-COVID-19 syndrome.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research AKT2 Gene Polymorphisms, sRANKL/OPG and Hormone Measurements in Polycystic Ovarian Syndrome (PCOS) Women
Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.