research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
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810-840 / 1000+ resultsresearch Behavioural characterization of Vitamin D receptor knockout mice
Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
research Regulation of Hair Follicle Growth and Development by Different Alternative Spliceosomes of FGF5 in Rabbits
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
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 Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Characterisation of the Ovine KRTAP36-1 Gene in Chinese Tan Lambs and Its Impact on Selected Wool Traits
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
research Identification and characterization of an antisense RNA transcript (gfg) from the human basic fibroblast growth factor gene.
Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
A single recessive gene causes sparse hair in certain Japanese White rabbits.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Genetic Variation in CYP2B6, UGT1A4 and Sulfotransferases Is Associated with Disease-Free Survival in South African Breast Cancer Patients Treated with Tamoxifen
Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Expression patterns of TRα and CRABPII genes in Chinese cashmere goat skin during prenatal development
TRα and CRABPII genes change their activity levels during goat fetal skin development.
research Construction of a cDNA library and identification of genes from Liaoning cashmere goat
Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
research Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep
The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research More about X‐linked testicular feminization of the mouse as a noninducible (is) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase
A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
research CRISPR/Cas9-mediated Disruption of Fibroblast Growth Factor 5 in Rabbits Results in a Systemic Long Hair Phenotype by Prolonging Anagen
Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
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 Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele
Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.