scholarly journals A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population

2003 ◽  
Vol 72 (1) ◽  
pp. 62-72 ◽  
Author(s):  
Zanhua Yi ◽  
Nanibaa’ Garrison ◽  
Orit Cohen-Barak ◽  
Tatiana M. Karafet ◽  
Richard A. King ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
P Gene ◽  
High Prevalence

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

1997 ◽  
Vol 100 (5-6) ◽  
pp. 651-656 ◽  
Author(s):  
Neelu Puri ◽  
Donna Durham-Pierre ◽  
Robert Aquaron ◽  
Patricia M. Lund ◽  
Richard A. King ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Deletion Allele ◽  
P Gene

A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population

2009 ◽  
Vol 22 (5) ◽  
pp. 645-647 ◽  
Author(s):  
Androuw Carrasco ◽  
Elaine M. Forbes ◽  
Pascale Jeambrun ◽  
Murray H. Brilliant
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Oculocutaneous Albinism ◽  
Site Mutation ◽  
High Prevalence

scholarly journals Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients

2003 ◽  
Vol 120 (5) ◽  
pp. 781-783 ◽  
Author(s):  
Tamio Suzuki ◽  
Yoshinori Miyamura ◽  
Jun Matsunaga ◽  
Hiroshi Shimizu ◽  
Yasuhiro Kawachi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
P Gene

scholarly journals Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene

2007 ◽  
Vol 52 (9) ◽  
pp. 771-780 ◽  
Author(s):  
Robert Aquaron ◽  
Nadem Soufir ◽  
Jean-Louis Bergé-Lefranc ◽  
Catherine Badens ◽  
Frederic Austerlitz ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Oculocutaneous Albinism ◽  
Cell Disease ◽  
P Gene

Premature ovarian ageing following heterozygous loss of Senataxin

2020 ◽  
Author(s):  
G N Subramanian ◽  
M Lavin ◽  
H A Homer
Keyword(s):  
Dna Damage ◽  
Neurodegenerative Disorder ◽  
Dna Helicase ◽  
Dna Integrity ◽  
Ovarian Activity ◽  
Homozygous Mutation ◽  
Female Mice ◽  
Mating Trial ◽  
High Prevalence

Abstract Premature loss of ovarian activity before 40 years of age is known as primary ovarian insufficiency (POI) and occurs in ∼1% of women. A more subtle decline in ovarian activity, known as premature ovarian ageing (POA), occurs in ∼10% of women. Despite the high prevalence of POA, very little is known regarding its genetic causation. Senataxin (SETX) is an RNA/DNA helicase involved in repair of oxidative stress-induced DNA damage. Homozygous mutation of SETX leads to the neurodegenerative disorder, ataxia oculomotor apraxia type 2 (AOA2). There have been reports of POI in AOA2 females suggesting a link between SETX and ovarian ageing. Here, we studied female mice lacking either one (Setx+/−) or both (Setx−/−) copies of SETX over a 12- to 14-month period. We find that DNA damage is increased in oocytes from 8-month-old Setx+/− and Setx−/− females compared with Setx+/+ oocytes leading to a marked reduction in all classes of ovarian follicles at least 4 months earlier than typically occurs in female mice. Furthermore, during a 12-month long mating trial, Setx+/− and Setx−/− females produced significantly fewer pups than Setx+/+ females from 7 months of age onwards. These data show that SETX is critical for preventing POA in mice, likely by preserving DNA integrity in oocytes. Intriguingly, heterozygous Setx loss causes an equally severe impact on ovarian ageing as homozygous Setx loss. Because heterozygous SETX disruption is less likely to produce systemic effects, SETX compromise could underpin some cases of insidious POA.

scholarly journals High prevalence of previously unknown heart failure and left ventricular dysfunction in patients with type 2 diabetes

Diabetologia ◽  
2012 ◽  
Vol 55 (8) ◽  
pp. 2154-2162 ◽  
Author(s):  
L. J. M. Boonman-de Winter ◽  
F. H. Rutten ◽  
M. J. M. Cramer ◽  
M. J. Landman ◽  
A. H. Liem ◽  
...  
Keyword(s):  
Heart Failure ◽  
Type 2 Diabetes ◽  
Left Ventricular Dysfunction ◽  
Ventricular Dysfunction ◽  
Left Ventricular ◽  
High Prevalence

404 Sleep-Disordered Breathing In Native Hawaiians/Pacific Islanders With Associated Comorbidities And Adherence To Therapy

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A160-A161
Author(s):  
Darin Ryujin ◽  
Krishna Sundar ◽  
Allyson Gilles
Keyword(s):  
Sleep Disordered Breathing ◽  
Demographic Data ◽  
Ethnic Origin ◽  
Pacific Islanders ◽  
Native Hawaiians ◽  
University Of Utah ◽  
High Prevalence ◽  
Artery Disease ◽  
Disordered Breathing

Abstract Introduction Sleep-disordered breathing in Native Hawaiians and Pacific Islanders (NHPIs), its relationship to type 2 diabetes mellitus (DM), chronic renal, and heart disease, is not well known. NHPIs comprise only 1.3% of Utah’s population, but have the highest rates of DM and deaths due to diabetic kidney disease in Utah. This study assessed the nature of sleep-disordered breathing, its association with demographic variables, and comorbidities, and adherence patterns to positive airway pressure (PAP) therapy. Methods University of Utah sleep clinics patient databases from 2014 were evaluated to identify NHPIs using first/last names. Electronic medical records were reviewed to confirm patient ethnic origin, demographic data, and comorbidities. The most recent PAP downloads were obtained. Results Of 106 NHPIs were identified, data available for 104 patients (71 males, 33 females) was analyzed. Mean age of males was 47 + 13 years and females 48±13 years. Prevalence rates of obesity were 13% (female 9%, male 15%) with BMI≥30, 33% (female 24%, male 23%) with BMI≥35, and 49% (female 58%, Male 23%) with BMI≥40). Majority of patients had severe OSA (61% males with AHI≥30; 39% females with ≥ 30), with overall mean AHI of 47±38. A high prevalence of comorbidities was noted: 61% hypertension (male 58%; female 67%), diabetes 54% (male 48%, female 67%), renal disease 20% (male 21%, female 18%), coronary artery disease 13% (male 14%, female 9%), and congestive heart failure 13% (male 15%, female 9%). Prevalence of lung disease was low 13% (male 9%, female 18%). Conclusion NHPIs evaluated for sleep-disordered breathing have high rates of obesity, severe OSA, and concerning comorbidities. PAP adherence in this group was poor compared to overall adherence for patients seen in University of Utah sleep clinics (~70%). Further research is required to assess the relationships between OSA, associated comorbidities, and disease outcomes. Addressing low rates of PAP adherence in this population may afford opportunities to improve health outcomes. Support (if any) n/a

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