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Did you mean Chromosome 17?

Glossary Chromosome 17

contains genes crucial for cell growth and DNA repair

Chromosome 17 is one of the 23 pairs of chromosomes in humans and contains approximately 83 million base pairs, which represent about 2.5% of the total DNA in cells. It is notable for housing several important genes, including those related to the production of proteins involved in cell growth, DNA repair, and the development of the nervous system. Mutations or alterations in genes on Chromosome 17 can lead to various medical conditions, such as certain types of cancer and neurological disorders.

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research Insertional mutation of the hairless locus on mouse Chromosome 14

19 citations , November 1993 in “Mammalian Genome”

This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.

research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

3 citations , December 2013 in “Balkan Journal of Medical Genetics”

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

210 citations , February 2008 in “Nature genetics”

This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse

July 2009 in “TSpace”

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

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”

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle

51 citations , January 2007 in “Animal Genetics”

This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.

research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family

7 citations , May 2010 in “Journal of Cutaneous Pathology”

This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.

research The Naked (N) Mutation, Chromosome 15

August 2020

This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.

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”

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

research Finding bald spots on chromosome 20p11

1 citations , February 2009 in “Clinical Genetics”

This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.

research SUN-069 A 14 Year Old Female with Primary Amenorrhea

April 2020 in “Journal of the Endocrine Society”

This case report emphasizes the importance of early diagnosis of Swyer Syndrome in adolescents with slow pubertal progression and primary amenorrhea due to the high risk of germ cell cancers.

research A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice

62 citations , April 2008 in “Neurobiology of aging”

This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.

research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice

23 citations , June 2010 in “Journal of Investigative Dermatology”

This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.

research A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family

36 citations , October 2000 in “British Journal of Dermatology”

This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.

research Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele

11 citations , October 2002 in “Genetics”

This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.

research Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells

December 2023 in “International journal of molecular sciences”

This in vitro study found sex chromosome differences affect steroidogenic enzyme activity and androgen receptor expression in human skeletal muscle cells, showing varied responses to testosterone exposure between 46XY and 46XX cells.

research Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health

13 citations , April 2024 in “International Journal of Molecular Sciences”

This literature review highlights the importance of understanding the mechanisms behind the gradual mosaic loss of the Y chromosome (mLOY) in men, its association with various health conditions like cardiovascular diseases and cancer, and its potential as a marker for age inference.

research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature

3 citations , November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports”

This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.

research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine

24 citations , October 2019 in “Genes”

In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.

research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations

1 citations , June 2022 in “Journal of Cosmetic Dermatology”

This study in a Korean population identified two novel genetic variants that may increase the risk of androgenetic alopecia, contributing to understanding its genetic basis in non-European populations.

British Association of Dermatology Meeting 1966: Dermatological Research and Case Studies

research BRITISH ASSOCIATION OF DERMATOLOGY.

November 1966 in “British Journal of Dermatology”

This conference proceeding abstract provides no new research results, focusing only on event details from the British Association of Dermatology's Forty-Sixth Annual Meeting held in Oxford in 1966.

research Letter To Editor-Alopecia universalis in Down syndrome: Response totherapy

January 2007 in “TSpace”

This abstract reviews published cases indicating a potential association between alopecia areata and Down syndrome, with no new clinical results.

research Male-pattern baldness susceptibility locus at 20p11

111 citations , October 2008 in “Nature Genetics”

In their study, Tim Spector and colleagues identified a new genetic association at chromosome 20p11.22 with male-pattern baldness, confirmed by the increased risk when combined with a known androgen receptor gene variant.

research Alopecia areata and Down syndrome: A true association and the importance of dermoscopic diagnosis

April 2016 in “Journal of The American Academy of Dermatology”

People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.

research Prediction of male-pattern baldness from genotypes

37 citations , October 2015 in “European Journal of Human Genetics”

This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.

Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome

research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome

6 citations , February 2004 in “Clinical and Experimental Ophthalmology”

This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.

Recurrent Pregnancy Loss Associated with Cytogenetic and Genetic Anomalies: A Study from Eastern India

research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India

2 citations , March 2024 in “International Journal of experimental research and review”

This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.

research The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes

10 citations , November 2021 in “International journal of molecular sciences”

This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.

research SEXUAL DIMORPHISM IN MAMMALS

138 citations , November 1974 in “Biological reviews/Biological reviews of the Cambridge Philosophical Society”

This review explores the structural and functional sex differences in mammals beyond reproductive organs, highlighting variations in life expectancy, organ size, metabolism, and immune function, but it reports no new results.

Frontal Fibrosing Alopecia: Clinical Patterns and Associations

research Frontal Fibrosing Alopecia

1 citations , September 2021 in “CRC Press eBooks”

This chapter reviews trichoscopic-pathologic correlations in Frontal Fibrosing Alopecia and reports no new clinical results; the authors discuss genetics, clinical patterns, and unusual variants associated with this condition.