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The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations , January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

A Replication Study Confirmed the EDAR Gene to Be a Major Contributor to Population Differentiation Regarding Head Hair Thickness in Asia

research A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia

89 citations , August 2008 in “Human genetics”

The EDAR gene greatly affects hair thickness in Asian populations.

research Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population

8 citations , January 2015 in “Genetics and Molecular Research”

Certain gene variations increase the risk of alopecia areata in Koreans.

research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata

44 citations , December 2005 in “Journal of Investigative Dermatology”

Certain genetic markers, especially the MICA gene, are linked to alopecia areata.

The VEGF +405 G>C 5' Untranslated Region Polymorphism and Risk of PCOS: A Study in South Indian Women

research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women

28 citations , August 2014 in “Journal of Assisted Reproduction and Genetics”

The VEGF +405G allele may increase the risk of PCOS in South Indian women.

research FGFR2 is associated with hair thickness in Asian populations

45 citations , July 2009 in “Journal of human genetics”

A gene variation is linked to hair thickness in Asians.

research Finding bald spots on chromosome 20p11

1 citations , February 2009 in “Clinical Genetics”

New genes linked to male pattern baldness were found on chromosome 20p11.

Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker

research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A33:01 ; B14:02; C*08:02 as a genetic marker

7 citations , January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene

20 citations , August 2003 in “Clinical and Experimental Dermatology”

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

research 8242 A Case of Ayme Gripp Syndrome

October 2024 in “Journal of the Endocrine Society”

Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.

research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24

April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology”

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

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 5 alpha-reductase-2 gene mutations in the Dominican Republic.

53 citations , May 1996 in “The Journal of Clinical Endocrinology & Metabolism”

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix

June 2010 in “Chinese Journal of Dermatology”

A new gene mutation is linked to monilethrix in the studied family.

research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep

January 2002 in “Agritrop (Cirad)”

The hr gene is linked to hair loss in Valle del Belice sheep.

research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

143 citations , January 2007 in “The American Journal of Human Genetics”

Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.

research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population

2 citations , January 2019 in “Annals of Dermatology”

Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.

research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

11 citations , February 2011 in “The Journal of Dermatology”

Mutations in the hairless gene cause a rare form of permanent hair loss.

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 Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

8 citations , July 2015 in “International Journal of Dermatology”

A new DSG4 gene mutation causes hair defects in a young girl.

research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus

12 citations , July 2015 in “Tissue Antigens”

The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.

research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

71 citations , February 2012 in “The American Journal of Human Genetics”

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome

January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology”

A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.

research Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele

February 2017 in “Cancer Causes & Control”

Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.

research Alopecia Areata is associated with MICA and an extended HLA haplotype

1 citations , March 2004 in “Journal of the American Academy of Dermatology”

Certain genes are linked to the risk of developing Alopecia Areata.

research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

53 citations , October 2003 in “Genetics”

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (W^sh) homozygotes

7 citations , October 1985 in “Genetics Research”

Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.

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