Search

for
Search:

Sort by

Research

480-510 / 1000+ results

research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5

3 citations , January 2019 in “Journal of Dermatology”

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells

research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K_ATPChannel Mutations in Intact Cells

1 citations , August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics”

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome

1 citations , September 2019 in “Steroids”

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

1 citations , August 2015 in “AACE Clinical Case Reports”

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears

10 citations , November 2008 in “Veterinary Dermatology”

The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.

research Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation

578 citations , April 1993 in “Cell”

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

research Keratin gene mutations in disorders of human skin and its appendages

185 citations , December 2010 in “Archives of Biochemistry and Biophysics”

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

174 citations , July 2003 in “The Journal of Clinical Endocrinology & Metabolism”

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene

94 citations , April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

80 citations , June 1997 in “The American Journal of Human Genetics”

research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.

78 citations , August 1996 in “The Journal of Clinical Endocrinology & Metabolism”

The same gene mutation can cause different symptoms in family members.

research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11

76 citations , January 1998 in “Mammalian Genome”

research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats

75 citations , September 2007 in “Journal of Heredity”

FGF5 gene mutations cause long hair in domestic cats.

research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase

73 citations , June 2010 in “PLoS Genetics”

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

research Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression

69 citations , May 1997 in “Veterinary Pathology”

The angora mouse mutation causes long hair and hair defects due to a gene deletion.

research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

67 citations , August 2004 in “Endocrinology”

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification

66 citations , October 2002 in “Human molecular genetics online/Human molecular genetics”

A gene mutation in mice causes skin defects and early death.

research Influence of TRPV3 mutation on hair growth cycle in mice

59 citations , September 2007 in “Biochemical and Biophysical Research Communications”

The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.

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

50 citations , September 2009 in “Molecular Genetics and Metabolism”

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions

47 citations , April 2000 in “Experimental Dermatology”

A new gene mutation causes a rare type of hair loss.

research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

47 citations , July 1998 in “Journal of Investigative Dermatology”

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome

34 citations , September 2010 in “Clinical and Experimental Dermatology”

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

33 citations , October 2005 in “Journal of Investigative Dermatology”

A specific gene mutation causes sparse, brittle hair in a family.

research Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5

29 citations , January 2003 in “Genomics”

A new mouse mutation causes skin and hair issues, influenced by another gene.

research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.

29 citations , January 1996 in “The Journal of Clinical Endocrinology & Metabolism”

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

26 citations , June 2004 in “Clinical Genetics”

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

← Previous page Next page →