A male pseudohermaphrodite with a dicentric Y chromosome

Ferrier, Pierre; Ferrier, S; Bill, Alexander H.

doi:10.1007/bf00297721

Cited by 15 publications

(6 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Noteworthy, the presence of BPAG1a3, a minor isoform expressed in the nervous system, does not prevent the development of dystonia, whereas transgenic expression of BPAG1a2 partially rescues the disease phenotype of dt mice. These observations imply that the various transcripts have distinct functions . The wide expression of BPAG1a in the CNS suggests that both cell‐autonomous and secondary neuronal defects in the CNS, resulting from peripheral sensory degeneration, contribute to the motor abnormalities .…”

Section: Mouse Models For Elucidating the Functions Of Bpag1a/bmentioning

confidence: 99%

“…Therefore, in the affected patient the negative impact of the identified mutation is thought to be due to a dominant negative effect exerted in the CNS by the truncated form of BPAG1a/b . A novel homozygous mutation in DST was found to cause sensory autonomic neuropathy classified as hereditary sensory and autonomic neuropathy syndrome of type VI (HSAN VI) . In affected patients, severe dysautonomic symptoms, distal contractures, motionless open‐mouthed faces, psychomotor retardation and early death occurred .…”

Section: Mutations Affecting Bpag1a/b In Human Cause Severe Neurologimentioning

confidence: 99%

See 1 more Smart Citation

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

Künzli

Favre

Chofflon³

et al. 2015

Experimental Dermatology

View full text Add to dashboard Cite

Since the immunochemical identification of the bullous pemphigoid antigen 230 (BP230) as one of the major target autoantigens of bullous pemphigoid (BP) in 1981, our understanding of this protein has significantly increased. Cloning of its gene, development and characterization of animal models with engineered gene mutations or spontaneous mouse mutations have revealed an unexpected complexity of the gene encoding BP230. The latter, now called dystonin (DST), is composed of at least 100 exons and gives rise to three major isoforms, an epithelial, a neuronal and a muscular isoform, named BPAG1e (corresponding to the original BP230), BPAG1a and BPAG1b, respectively. The various BPAG1 isoforms play a key role in fundamental processes, such as cell adhesion, cytoskeleton organization, and cell migration. Genetic defects of BPAG1 isoforms are the culprits of epidermolysis bullosa and complex, devastating neurological diseases. In this review, we summarize recent advances of our knowledge about several BPAG1 isoforms, their role in various biological processes and in human diseases.

show abstract

Section: Mouse Models For Elucidating the Functions Of Bpag1a/bmentioning

confidence: 99%

Section: Mutations Affecting Bpag1a/b In Human Cause Severe Neurologimentioning

confidence: 99%

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

Künzli

Favre

Chofflon³

et al. 2015

Experimental Dermatology

View full text Add to dashboard Cite

show abstract

“…As a result, we are left with two possibilities. In the case of a dic(Yq) associated with at least one mature testis (and there have been at least four cases of this90 (case 12) 91 (case 3) 92 94) proponents of this theory are forced to conclude that the deletion of the Yp must have been small so as to exclude the 'maturation' gene. In the case of a dic(Yq) subject with less than mature testicular tissue, it is impossible to determine if the reduced masculinisation is the restult of a deletion of the 'maturation' gene, or of the 45,X cell line, or both.…”

Section: Ronald M Davismentioning

confidence: 99%

“…In the first two cases, this is supported by the fact that the short arms of the X and Y chromosomes terminally synapse during meiosis. 87 Recently [93][94][95][96][97][98][99][100][101][102][103][104][105] Since the formation of the dicentric Yq chromosome involves a break in the short arms and loss of the segment distal to the break (see footnote a, appendix 1), at least the most distal portion of the Yp may be excluded as the carrier of the male determining factors.…”

mentioning

confidence: 99%

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Davis¹

1981

Journal of Medical Genetics

137

View full text Add to dashboard Cite

“…William Wilson, the son of a minor Lanarkshire laird who, after a period of exile, had returned to Britain with William of Orange (after whom his son was named). 108 Equally important was the restoration after 1690 of 'antediluvian' ministers, many of whom had been in exile. They found charges not only in the south west but also -admittedly only in a few cases -further afield, as in Edinburgh and Dundee.…”

mentioning

confidence: 99%

Reformed Religion, Regime Change, Scottish Whigs and the Struggle for the ‘Soul’ of Scotland, c.1688 – c.1788

Whatley¹

2013

The Scottish Historical Review

View full text Add to dashboard Cite

This article responds to and is designed as a counterweight to recent work on political history in early-modern Scotland in which Jacobitism has been persuasively portrayed as a strongly supported movement over time rather than an episodic cause. Building upon recent research on the Union of 1707 which demonstrated the degree of principled and consistent support there was for closer union with England within a British polity, the paper seeks to show that there was a clearly identifiable ideological basis to anti-Jacobitism in Scotland. The term, however, is best understood as the Revolution or, even better, the Whig interest, not least as the principles upon which anti-Jacobitism were based predated the Revolution of 1688-9 and the emergence of Jacobitism. The Revolution, it is argued, had many more supporters, and from a wider geographical area, than has generally been assumed in accounts which focus largely on the south west of Scotland. Support took various forms, ranging from prayer through public campaigning to the taking up of arms. It is also clear that support for Whig principles was not only longstanding but also grew over the period examined. What is underlined is that Scotland was a deeply fissured nation, the principal divide owing much but not everything to religion and differing perspectives on the nature of monarchical authority and the role of parliament. 4 P. K. Monod, M. G. H.

show abstract

A male pseudohermaphrodite with a dicentric Y chromosome

Cited by 15 publications

References 24 publications

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Reformed Religion, Regime Change, Scottish Whigs and the Struggle for the ‘Soul’ of Scotland, c.1688 – c.1788

Contact Info

Product

Resources

About