research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
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research 583 RNA sequencing of immortalised balding and non balding DPCs identifies potential balding gene signatures
The research found specific genes that are more active in balding cells, which could be causing hair loss.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Serum level of retinol-binding protein 4 in alopecia areata: relation with recurrence and severity
Higher levels of retinol-binding protein 4 are found in people with alopecia areata, but these levels don't relate to how severe the condition is.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research A pair of transmembrane receptors essential for the retention and pigmentation of hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Efficacy and Safety of Rb‐bFGF in Hair Transplantation: A Prospective and Comparative Study
Rb-bFGF improves hair transplant results and patient satisfaction with fewer complications.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population
Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
research DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE
The ABI1 gene contributes to prostate cancer progression and treatment resistance.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function
Hairless protein helps control hair growth by regulating vitamin D receptor activity.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.
research Prevalence and characteristics of polycystic ovary syndrome in Brazilian women: protocol for a nation-wide case–control study
PCOS is common in Brazilian women and linked to metabolic and reproductive issues.
research 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
research Association of psoriasis and psoriatic arthritis with human leukocyte antigen and killer cell immunoglobulin–like receptor gene frequency: A multiethnic population study
Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research Mrp3, a Mitogen-Regulated Protein/Proliferin Gene Expressed in Wound Healing and in Hair Follicles*
Mrp3 helps in wound healing and hair growth.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Retinoic Acid-Related Orphan Receptor Alpha May Regulate the State of Hair Follicle Stem Cells by Upregulating the Expression of BNIP3
RORA may help regulate hair growth by affecting hair follicle stem cells.