research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
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750-780 / 1000+ resultsresearch Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Sequencing KRT71 as a candidate gene for hair shape variation in dromedary camels
KRT71 gene variants may influence camel hair shape but don't fully explain it.
research Polymorphisms in androgen and estrogen receptor genes: effects on male aging
Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research androgenetic alopecia, n.
The document's conclusion cannot be determined from the provided text.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Genome-Wide Association Study for Body Conformation Traits in Kazakh Fat-Tailed Coarse-Wool Sheep
Genetic markers linked to sheep body traits were identified, aiding future breeding.
research Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs
Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
research RSL4 regulatory network acts as an early driver of root hair growth at low temperature in Arabidopsis thaliana
A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research RNA-seq analysis identifies key genes enhancing hoof strength to withstand barefoot racing in Standardbred trotters
Certain genes contribute to stronger hooves in barefoot racing horses.
research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research GLABROUS INFLORESCENCE STEMS3 binds to and activates RHD2 and RHD4 genes to promote root hair elongation in Arabidopsis
A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research 1381 Molecular mechanisms of donor dominance in androgenetic alopecia
Hair pattern in androgenetic alopecia overlaps with scalp and bone demarcations, with distinct gene profiles affecting susceptibility.
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research Supplemental material_PM_AGA
research Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
research Inducible expression of gasdermin A3 in the epidermis causes epidermal hyperplasia and skin inflammation
Gasdermin A3 overexpression in skin causes inflammation and hair loss.
research A temperature-sensitive FERONIA mutant allele that alters root hair growth
A mutant FERONIA gene affects root hair growth at high temperatures.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.