research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
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research Werewolf, there wolf: variants in Hairless associated with hypotrichia and roaning in the lykoi cat breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research 1347 Updated skin transcriptomic atlas depicted by reciprocal contribution of single-nucleus RNA sequencing and single-cell RNA sequencing
The research updated the skin cell profile, finding new skin cell markers and showing fibroblasts' key role in skin health.
research Identification of a link between Wnt/β-catenin signalling and the cell fusion pathway
Wnt/β-catenin signaling is crucial for cell fusion in placental development.
research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
research Genome-wide DNA methylation and transcriptome analyses reveal the key gene for wool type variation in sheep
The SOSTDC1 gene is crucial for determining sheep wool type.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Genome-wide detection and sequence conservation analysis of long non-coding RNA during hair follicle cycle of yak
The study found key long non-coding RNAs involved in yak hair growth cycles.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Relationship between Copper, Zinc, and Copper-to-Zinc Ratio in Hair and Severity of Coronary Artery Disease according to the SYNTAX Score
Lower hair copper and copper-to-zinc ratio are linked to more severe coronary artery disease.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
research Association between genetically predicted rheumatoid arthritis and alopecia areata: a two-sample Mendelian randomization study
People with rheumatoid arthritis have a higher risk of developing alopecia areata.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Ectodysplasin-A (EDA) Signaling Cross-Talk in Skeletogenesis
The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
research A multi-omic single-cell landscape of perinatal mouse skin maps lineage specification and reveals shared dynamics in human fetal skin
Mouse and human skin development share similar fibroblast timelines.
research Chromosomal Localization of Mouse Hair Keratin Genesa
Most mouse hair keratin genes are on chromosomes 11 and 15.
research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
The research found specific genes that may cause longer hair in Tianzhu White Yak.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Agouti and Agouti-related Protein: Analogies and Contrasts
Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Studies on changes in the concentration of serum adrenal androgens in pubertal twins
Adrenal androgens are important for puberty and are influenced by genetics.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family
Abraham's family infertility may have a genetic explanation.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.