Search

for
Search:

Sort by

Research

300-330 / 1000+ results

research De novo mutation in the mitochondrial tRNA^Leu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

19 citations , February 2001 in “Journal of paediatrics and child health”

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

research The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19

7 citations , January 2021 in “The journal of gene medicine”

Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.

research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.

September 1997 in “Clinical and Experimental Dermatology”

A Study of the Androgen Receptor Gene Polymorphism and the Level of Expression of the Androgen Receptor in Androgenetic Alopecia Among Egyptians

research A Study of the androgen receptor gene polymorphism and the level of expression of the androgen receptor in androgenetic alopecia among Egyptians

January 2009 in “Egyptian Journal of Medical Human Genetics”

The study suggests that a specific gene variation and higher gene activity are linked to increased baldness in Egyptian men.

research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

39 citations , January 2019 in “Cells”

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

1 citations , November 2024 in “Diabetes Metabolic Syndrome and Obesity”

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes

12 citations , January 2000 in “Biochemical and Biophysical Research Communications”

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population

15 citations , August 2013 in “Gene”

The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.

research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis

17 citations , June 2017 in “Gene”

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations

40 citations , September 2004 in “Biomacromolecules”

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

research Keratin disorders: from gene to therapy

109 citations , September 2011 in “Human molecular genetics online/Human molecular genetics”

New treatments targeting specific genes show promise for treating keratin disorders.

research Polymorphisms in androgen and estrogen receptor genes: effects on male aging

12 citations , October 2004 in “Experimental Gerontology”

Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.

research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

23 citations , December 2013 in “British Journal of Dermatology”

A new gene mutation linked to a skin condition was found in a Spanish family.

research Androgen receptors and their biology

66 citations , January 2001 in “Vitamins and hormones”

Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.

research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

2 citations , January 2022 in “The Application of Clinical Genetics”

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

research Nucleocytoplasmic Communication in Progeria

April 2014 in “Libra”

Defective nuclear transport may cause gene expression changes in Progeria.

Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form

research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

98 citations , June 2008 in “Human mutation”

A genetic change in the EDAR gene causes the unique hair traits found in East Asians.

research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

39 citations , September 2018 in “American Journal of Medical Genetics Part A”

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

1 citations , December 2015 in “Balkan Journal of Medical Genetics”

Genetic screening can help diagnose and manage infertility in Slovenian couples.

research Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness

299 citations , March 2001 in “Journal of Investigative Dermatology”

Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.

research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )

9 citations , January 2014 in “Molecular Genetics and Metabolism Reports”

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia

5 citations , March 2005 in “Journal of The American Academy of Dermatology”

research Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer

3 citations , April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY”

Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.

Androgen Receptor Gene Polymorphism (SNP RS6152) – Its Relationship to Androgen-Sensitive Genes Expression in Benign Prostatic Hyperplasia, Carcinoma of the Prostate, and Androgenetic Alopecia

research 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA

March 2011 in “European Urology Supplements”

Gene variation affects prostate issues and hair loss.

research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease

January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

research Hunting the genes in male‐pattern alopecia: how important are they, how close are we and what will they tell us?

46 citations , February 2016 in “Experimental Dermatology”

Genes play a significant role in male-pattern baldness, and understanding them could lead to new treatments and insights into related health issues.

← Previous page Next page →