research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
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research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
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 Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research HDL as Therapeutic Tools
Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is essential for proper hair structure and color.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research ANTI‐HAIR KERATIN MONOCLONAL ANTIBODY (HKN‐2)
HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair (vol 8, pg 241, 2008)
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Pre-keratin isolated from epidermal microsomes
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Concerted gene duplications in the two keratin gene families
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle
The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
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.