research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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180-210 / 1000+ resultsresearch Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Humans have ancient DNA from Neanderthals and other lineages in their chromosomes, affecting traits and evolution.
research Clinical Corner: Case Report Spermatozoa and Chronic Treatment with Finasteride: A TEM and FISH Study
Long-term finasteride use may affect sperm structure and chromosomes.
research Long non-coding RNA Xist contribution in systemic lupus erythematosus and rheumatoid arthritis
Females are more prone to lupus and arthritis due to X chromosome factors.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Letter To Editor-Alopecia universalis in Down syndrome: Response totherapy
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek
The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
research Genome-Wide Association Study and Transcriptome Differential Expression Analysis of the Feather Rate in Shouguang Chickens
Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.
research Sex differences in the hypothalamic–pituitary–adrenal axis’ response to stress: an important role for gonadal hormones
Male and female bodies respond differently to stress, influenced by hormones and development stages, with implications for stress-related diseases.
research Androgen receptors and their biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research The Sex-Linked Histocompatibility Antigens
Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
research Transcriptome Profiling of Human Follicle Dermal Papilla Cells in response to Porphyra-334 Treatment by RNA-Seq
Porphyra-334 may help reduce wrinkles and promote hair growth.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research Characterization of Hair Follicles in Hirosaki Hairless Rats with Deletion of Basic Hair Keratin Genes. Enlarged Medulla, Loss of Cuticle and Long Catagen
Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.