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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

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

6 citations , June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

September 2024 in “Journal of Medicine and Life”

A specific gene mutation causes a severe skin disorder in a family.

research Faculty Opinions recommendation of Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis.

October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

Certain gene variations are significantly linked to hair loss, especially in white people.

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 A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling

21 citations , January 2006 in “Hormone Research in Paediatrics”

A mutation in the VDR gene affects hair cycling without needing ligand binding.

research Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer

December 2004 in “SUNScholar (Stellenbosch University)”

Certain genetic markers can indicate a person's risk of developing prostate cancer.

research CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?

29 citations , July 2013 in “The Journal of Sexual Medicine”

Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.

research Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study

7 citations , October 2019 in “Clinical, Cosmetic and Investigational Dermatology”

Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.

research 胃切除・腸切除術後の退院指導-パンフレットを使用して-

January 2007 in “日本看護学会抄録集成人看護1”

Certain amino acids in 5AR1 and 5AR2 are crucial for binding and resistance to Finasteride.

Genetic Single Nucleotide Polymorphisms of IL-16 and Its Concentration in Patients Infected with Alopecia Areata in Diyala Province, Iraq

research Genetic Single Nucleotide Polymorphisms of IL-16 and its Concentration of Patients Infected with Alopecia Areata in Diyala Province, Iraq

January 2023 in “International Journal of Zoological Investigations”

Certain genetic variations in IL-16 may increase the risk of alopecia areata.

Baldness And The Androgen Receptor: The AR Polyglycine Repeat Polymorphism Does Not Confer Susceptibility To Androgenetic Alopecia

research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia

60 citations , January 2007 in “Human Genetics”

AR polyglycine repeat doesn't cause baldness.

research Sry Transcript Expression in Five Adult Male Rat Tissues and Correlation with Acsl3 Transcript Expression

December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)”

Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.

research Reduced levels of 5-α reductase 2 in adult prostate tissue and implications for BPH therapy

39 citations , February 2011 in “The Prostate/The prostate”

Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.

research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome

4 citations , April 2019 in “Gynecological Endocrinology”

Certain gene variations are found in people with polycystic ovary syndrome.

Association of Psoriasis and Psoriatic Arthritis with Human Leukocyte Antigen and Killer Cell Immunoglobulin-Like Receptor Gene Frequency: A Multiethnic Population Study

research Association of psoriasis and psoriatic arthritis with human leukocyte antigen and killer cell immunoglobulin–like receptor gene frequency: A multiethnic population study

February 2009 in “Journal of The American Academy of Dermatology”

Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.

Genetic Variation in CYP2B6, UGT1A4, and Sulfotransferases Is Associated with Disease-Free Survival in South African Breast Cancer Patients Treated with Tamoxifen

research Genetic Variation in CYP2B6, UGT1A4 and Sulfotransferases Is Associated with Disease-Free Survival in South African Breast Cancer Patients Treated with Tamoxifen

March 2026 in “Journal of Personalized Medicine”

Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.

research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata

March 2025 in “Clinical Cosmetic and Investigational Dermatology”

The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.

research Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population

12 citations , December 2013 in “Immunological Investigations”

The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.

research Association between IL16 gene polymorphisms and susceptibility to alopecia areata in the Korean population

11 citations , December 2013 in “International Journal of Dermatology”

IL16 gene variations may affect the risk of alopecia areata in Koreans.

research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

11 citations , March 2020 in “American Journal of Medical Genetics Part A”

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

37 citations , August 2011 in “Journal of Bone and Mineral Research”

A girl had rickets due to a gene mutation affecting vitamin D response.

research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

3 citations , October 2021 in “Turkish Journal Of Neurology”

Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.

research A meta-analysis of the relationship between vitamin D receptor gene ApaI polymorphisms and polycystic ovary syndrome

10 citations , January 2019 in “Advances in Clinical and Experimental Medicine”

Certain variations in the vitamin D receptor gene are linked to an increased risk of polycystic ovary syndrome.

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.

research Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population

9 citations , August 2013 in “PLOS ONE”

Genetic variants at 20p11 increase baldness risk in Chinese Han people.

research Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia

1 citations , May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)”

The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.

research Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population

3 citations , October 2021 in “The Application of Clinical Genetics”

Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.

research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

8 citations , March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis

3 citations , April 2012 in “Bioinformation”

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

32 citations , November 2020 in “UNC Libraries”

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

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